Canonical Allele Identifier: CA645557763

Gene: ABO

Linked Data

• gnomAD v4: 9-133255926-AC-A
• COSMIC: COSM4658603

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255933del , CM000671.2:g.133255933del	GRCh38
NC_000009.11:g.136131320del , CM000671.1:g.136131320del	GRCh37
NC_000009.10:g.135121141del	NCBI36
NG_006669.1:g.21741del
NG_006669.2:g.24289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.833del
ENST00000647353.1:n.54-4775del
ENST00000679909.1:c.28+19235del	ENSP00000506089.1:n.28+19235del
ENST00000453660.3:n.815del
ENST00000538324.2:c.801del	ENSP00000483018.1:p.Phe268SerfsTer20
ENST00000611156.4:c.801del	ENSP00000483265.1:p.Phe268SerfsTer20
NM_020469.2:c.804del	NP_065202.2:p.Phe269SerfsTer20
NM_020469.3:c.804del	NP_065202.2:p.Phe269SerfsTer20