Canonical Allele Identifier: CA1129715144

Gene: ABO

Linked Data

• dbSNP Id: rs1834564659
• gnomAD v3: 9-133255823-TC-T
• gnomAD v4: 9-133255823-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255824del , CM000671.2:g.133255824del	GRCh38
NC_000009.11:g.136131211del , CM000671.1:g.136131211del	GRCh37
NC_000009.10:g.135121032del	NCBI36
NG_006669.1:g.21844del
NG_006669.2:g.24392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.936del
ENST00000647353.1:n.54-4672del
ENST00000679909.1:c.28+19338del	ENSP00000506089.1:n.28+19338del
ENST00000453660.3:n.918del
ENST00000538324.2:c.904del	ENSP00000483018.1:p.Glu302ArgfsTer4
ENST00000611156.4:c.904del	ENSP00000483265.1:p.Glu302ArgfsTer4
NM_020469.2:c.907del	NP_065202.2:p.Glu303ArgfsTer4
NM_020469.3:c.907del	NP_065202.2:p.Glu303ArgfsTer4