Canonical Allele Identifier: CA2954282289

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257423dup , CM000671.2:g.133257423dup	GRCh38
NC_000009.11:g.136132810dup , CM000671.1:g.136132810dup	GRCh37
NC_000009.10:g.135122631dup	NCBI36
NG_006669.1:g.20245dup
NG_006669.2:g.22793dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.389dup
ENST00000647353.1:n.54-6271dup
ENST00000651471.1:n.329+619dup
ENST00000679909.1:c.28+17739dup	ENSP00000506089.1:n.28+17739dup
ENST00000453660.3:n.371dup
ENST00000538324.2:c.357dup	ENSP00000483018.1:p.Phe120ValfsTer?
ENST00000611156.4:c.357dup	ENSP00000483265.1:p.Phe120ValfsTer?
NM_020469.2:c.360dup	NP_065202.2:p.Phe121ValfsTer?
NM_020469.3:c.360dup	NP_065202.2:p.Phe121ValfsTer?