Canonical Allele Identifier: CA2692330342

Gene: ABO

Linked Data

• gnomAD v4: 9-133255638-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255639dup , CM000671.2:g.133255639dup	GRCh38
NC_000009.11:g.136131026dup , CM000671.1:g.136131026dup	GRCh37
NC_000009.10:g.135120847dup	NCBI36
NG_006669.1:g.22029dup
NG_006669.2:g.24577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1121dup
ENST00000647353.1:n.54-4487dup
ENST00000679909.1:c.28+19523dup	ENSP00000506089.1:n.28+19523dup
ENST00000453660.3:n.1103dup
ENST00000538324.2:c.1085dup	ENSP00000483018.1:p.Pro363AlafsTer?
ENST00000611156.4:c.*27dup	ENSP00000483265.1:n.*27dup
NM_020469.2:c.*27dup	NP_065202.2:n.*27dup
NM_020469.3:c.*27dup	NP_065202.2:n.*27dup