Canonical Allele Identifier: CA591377530

Gene: ABO

Linked Data

• dbSNP Id: rs782433608
• gnomAD v2: 9-136131478-TGTCCAC-T
• gnomAD v4: 9-133256091-TGTCCAC-T
• MyVariant Identifiers: chr9:g.136131479_136131484del (hg19) ; chr9:g.133256092_133256097del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256099_133256104del , CM000671.2:g.133256099_133256104del	GRCh38
NC_000009.11:g.136131486_136131491del , CM000671.1:g.136131486_136131491del	GRCh37
NC_000009.10:g.135121307_135121312del	NCBI36
NG_006669.1:g.21571_21576del
NG_006669.2:g.24119_24124del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.663_668del
ENST00000647353.1:n.54-4945_54-4940del
ENST00000679909.1:c.28+19065_28+19070del	ENSP00000506089.1:n.28+19065_28+19070del
ENST00000453660.3:n.645_650del
ENST00000538324.2:c.631_636del	ENSP00000483018.1:p.Val211_Asp212del
ENST00000611156.4:c.631_636del	ENSP00000483265.1:p.Val211_Asp212del
NM_020469.2:c.634_639del	NP_065202.2:p.Val212_Asp213del
NM_020469.3:c.634_639del	NP_065202.2:p.Val212_Asp213del