Canonical Allele Identifier: CA2579497350

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256246dup , CM000671.2:g.133256246dup	GRCh38
NC_000009.11:g.136131633dup , CM000671.1:g.136131633dup	GRCh37
NC_000009.10:g.135121454dup	NCBI36
NG_006669.1:g.21422dup
NG_006669.2:g.23970dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.514dup
ENST00000647353.1:n.54-5094dup
ENST00000651471.1:n.440dup
ENST00000679909.1:c.28+18916dup	ENSP00000506089.1:n.28+18916dup
ENST00000453660.3:n.496dup
ENST00000538324.2:c.482dup	ENSP00000483018.1:p.Thr162AspfsTer?
ENST00000611156.4:c.482dup	ENSP00000483265.1:p.Thr162AspfsTer?
NM_020469.2:c.485dup	NP_065202.2:p.Thr163AspfsTer?
NM_020469.3:c.485dup	NP_065202.2:p.Thr163AspfsTer?