Canonical Allele Identifier: CA2692330359

Gene: ABO

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256169_133256189dup , CM000671.2:g.133256169_133256189dup	GRCh38
NC_000009.11:g.136131556_136131576dup , CM000671.1:g.136131556_136131576dup	GRCh37
NC_000009.10:g.135121377_135121397dup	NCBI36
NG_006669.1:g.21480_21500dup
NG_006669.2:g.24028_24048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.572_592dup
ENST00000647353.1:n.54-5036_54-5016dup
ENST00000651471.1:n.498_518dup
ENST00000679909.1:c.28+18974_28+18994dup	ENSP00000506089.1:n.28+18974_28+18994dup
ENST00000453660.3:n.554_574dup
ENST00000538324.2:c.540_560dup	ENSP00000483018.1:p.Arg187_Met188insGlnAspValSerMetArgArg
ENST00000611156.4:c.540_560dup	ENSP00000483265.1:p.Arg187_Met188insGlnAspValSerMetArgArg
NM_020469.2:c.543_563dup	NP_065202.2:p.Arg188_Met189insGlnAspValSerMetArgArg
NM_020469.3:c.543_563dup	NP_065202.2:p.Arg188_Met189insGlnAspValSerMetArgArg