Canonical Allele Identifier: CA2954284589

Gene: ABO

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256168dup , CM000671.2:g.133256168dup	GRCh38
NC_000009.11:g.136131555dup , CM000671.1:g.136131555dup	GRCh37
NC_000009.10:g.135121376dup	NCBI36
NG_006669.1:g.21500dup
NG_006669.2:g.24048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.592dup
ENST00000647353.1:n.54-5016dup
ENST00000651471.1:n.518dup
ENST00000679909.1:c.28+18994dup	ENSP00000506089.1:n.28+18994dup
ENST00000453660.3:n.574dup
ENST00000538324.2:c.560dup	ENSP00000483018.1:p.Met188HisfsTer6
ENST00000611156.4:c.560dup	ENSP00000483265.1:p.Met188HisfsTer6
NM_020469.2:c.563dup	NP_065202.2:p.Met189HisfsTer6
NM_020469.3:c.563dup	NP_065202.2:p.Met189HisfsTer6