Canonical Allele Identifier: CA2840305258

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255891dup , CM000671.2:g.133255891dup	GRCh38
NC_000009.11:g.136131278dup , CM000671.1:g.136131278dup	GRCh37
NC_000009.10:g.135121099dup	NCBI36
NG_006669.1:g.21777dup
NG_006669.2:g.24325dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.869dup
ENST00000647353.1:n.54-4739dup
ENST00000679909.1:c.28+19271dup	ENSP00000506089.1:n.28+19271dup
ENST00000453660.3:n.851dup
ENST00000538324.2:c.837dup	ENSP00000483018.1:p.Thr280HisfsTer?
ENST00000611156.4:c.837dup	ENSP00000483265.1:p.Thr280HisfsTer?
NM_020469.2:c.840dup	NP_065202.2:p.Thr281HisfsTer?
NM_020469.3:c.840dup	NP_065202.2:p.Thr281HisfsTer?