Canonical Allele Identifier: CA2840305254

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255710dup , CM000671.2:g.133255710dup	GRCh38
NC_000009.11:g.136131097dup , CM000671.1:g.136131097dup	GRCh37
NC_000009.10:g.135120918dup	NCBI36
NG_006669.1:g.21959dup
NG_006669.2:g.24507dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1051dup
ENST00000647353.1:n.54-4557dup
ENST00000679909.1:c.28+19453dup	ENSP00000506089.1:n.28+19453dup
ENST00000453660.3:n.1033dup
ENST00000538324.2:c.1019dup	ENSP00000483018.1:p.Thr341HisfsTer13
ENST00000611156.4:c.1019dup	ENSP00000483265.1:p.Thr341HisfsTer?
NM_020469.2:c.1022dup	NP_065202.2:p.Thr342HisfsTer?
NM_020469.3:c.1022dup	NP_065202.2:p.Thr342HisfsTer?