DEL

according to ISBT allele nomenclature version 4.0_170110 (20-Jan-2010)

DesignationISBT nameClusterHaplotypeMechanismAlterationsFirst mentionDefinitive publication
RHD(1227G>A)RHD*01EL.01
RHD*DEL1
Eurasian D clusterCDeSplice site mutation1227G>A
20012001
RHD(M1I)RHD*01EL.02
RHD*DEL2
Eurasian D clusternot reportedLoss of start codon3G>A (M1I)
20062006
RHD(L18P)RHD*01EL.03
RHD*DEL3
Eurasian D clusternot reportedSingle missense mutation53T>C (L18P)
20062006
RHD(147del A)RHD*01EL.04
RHD*DEL4
Eurasian D clusterCDeShort deletion147del A
IVS1+6del A
20042009
RHD(IVS1+1G>A)RHD*01EL.05
RHD*DEL5
Eurasian D clusternot reportedSplice site mutationIVS1+1G>A
2001
RHD(L84P)RHD*01EL.06
RHD*DEL6
Eurasian D clusternot reportedSingle missense mutation251T>C (L84P)
20062006
RHD(A137E)RHD*01EL.07
RHD*DEL7
Eurasian D clusterCDeSingle missense mutation410C>A (A137E)
20062009
RHD(IVS3+1G>A)RHD*01EL.08
RHD*DEL8
Eurasian D clusterCDeSplice site mutationIVS3+1G>A
20012001
RHD(IVS3+2T>A)RHD*01EL.09
RHD*DEL9
Eurasian D clustercDESplice site mutationIVS3+2T>A
20082009
RHD(W408R)RHD*01EL.10
RHD*DEL10
Eurasian D clusterCDeSingle missense mutation1222T>C (W408R)
20052005
RHD(X418L)RHD*01EL.11
RHD*DEL11
Eurasian D clusterCDeLoss of stop codonX418L (1252ins T)
20052005
RHD(L153P)RHD*01EL.12
RHD*DEL12
Eurasian D clustercDESingle missense mutation458T>C (L153P)
20042009
RHD(786del A)RHD*01EL.13
RHD*DEL13
Eurasian D clusterCDeShort deletion786del A
20042009
RHD(IVS4+5G>T)RHD*01EL.14
RHD*DEL14
Eurasian D clusternot reportedSplice site mutationIVS4+5G>T
2010
RHD(G308X)RHD*01EL.15
RHD*DEL15
Eurasian D clusterCDeNonsense mutation922G>T (G308X)
2010
RHD(G212R)RHD*01EL.16
RHD*DEL16
Eurasian D clustercDeMissense (splice site affected)634G>C (G212R)
20082009
RHD(93insT)RHD*01EL.18
RHD*DEL18
Eurasian D clusterCDeShort insertion93insT
20082008
RHD(IVS4-2A>G)RHD*01EL.19
RHD*DEL19
Eurasian D clusternot reportedSplice site mutationIVS4-2A>G
20102011
RHD(IVS8-8T>A)RHD*01EL.20
RHD*DEL20
Eurasian D clusternot reportedSplice site mutationIVS8-8T>A
20072007
RHD(IVS1+5G>C)RHD*01EL.21
RHD*DEL21
Eurasian D clusternot reportedSplice site mutationIVS1+5G>C
2013
DEL RHD(A280T)RHD*01EL.24
RHD*DEL24
Eurasian D clusternot reportedSingle missense mutation838G>A (A280T)
2014
DEL RHD(X418K)RHD*01EL.25
RHD*DEL25
Eurasian D clusterCDeLoss of stop codon1252T>A (X418K)
20152015
RHD(1248insG)RHD*01EL.26
RHD*DEL26
Eurasian D clusterCDeShort insertion1248insG
20142014
RHD(993delC)RHD*01EL.28
RHD*DEL28
Eurasian D clusternot reportedShort deletion993delC
2014
RHD(D404H)RHD*01EL.29
RHD*DEL29
Eurasian D clustercDESingle missense mutation1210G>C (D404H)
2012
RHD(del Ex8)RHD*01EL.30
RHD*DEL30
Eurasian D clusternot reportedlarge deletiondel Ex8
20072007
RHD(IVS1+1G>T)RHD*01EL.31
RHD*DEL31
Eurasian D clustercDESplice site mutationIVS1+1G>T
20142014
RHD(IVS1-29G>C)RHD*01EL.32
RHD*DEL32
Eurasian D clusterCDeIntron polymorphismIVS1-29G>C
2012
RHD(IVS2-2A>G)RHD*01EL.33
RHD*DEL33
Eurasian D clusternot reportedSplice site mutationIVS2-2A>G
20112011
RHD(IVS7+152C>A,1227G>A)RHD*01EL.36
RHD*DEL36
Eurasian D clusterCDeSplice site mutation1227G>A
IVS7+152C>A
20022002
RHD(IVS8-31C>T)RHD*01EL.37
RHD*DEL37
Eurasian D clusternot reportedIntron polymorphismIVS8-31C>T
2012
RHD(L337R)RHD*01EL.38
RHD*DEL38
Eurasian D clusterCDeSingle missense mutation1010T>G (L337R)
20142014
RHD(L38X)RHD*01EL.39
RHD*DEL39
Eurasian D clusternot reportedNonsense mutation113T>A (L38X)
2010
RHD(L93R)RHD*01EL.40
RHD*DEL40
Eurasian D clusterCDeSingle missense mutation278T>G (L93R)
20142014
RHD(P291R)RHD*01EL.41
RHD*DEL41
Eurasian D clusterCDeSingle missense mutation872C>G (P291R)
2012
RHD(S112T)RHD*01EL.42
RHD*DEL42
Eurasian D clusternot reportedMissense (splice site affected)335G>C (S112T)
IVS1-29G>C
2012
RHD(W16R)RHD*01EL.43
RHD*DEL43
Eurasian D clustercDESingle missense mutation46T>C (W16R)
2012
RHD-RHCE(4-9)-RHDRHD*01EL.44
RHD*DEL44
Eurasian D clusterCDehybrid alleleHybrid RHCE(4-9)
20092009
RHD(T241P)RHD*01EL.45
RHD*DEL45
Eurasian D clusternot reportedSingle missense mutation721A>C (T241P)
weak D type 94RHD* 01W.94
RHD*weak D type 94
RHD*01EL.46
RHD*DEL46
Eurasian D clusterCDeSingle missense mutation884T>C (M295T)
20122013
DBURHD*41
RHD*DBU
RHD*01EL.23
RHD*DEL23
Eurasian D clustercDEhybrid alleleHybrid RHcE[226P](5-7)
20082009
RHD(IVS2-2delA)RHD*53
RHD*01EL.22
RHD*DEL22
Eurasian D clusternot reportedShort deletionIVS2-2delA
2013