Canonical Allele Identifier: CA1129714897

Gene: ABO

Linked Data

• dbSNP Id: rs1334766201
• gnomAD v3: 9-133255470-CTG-C
• gnomAD v4: 9-133255470-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255478_133255479del , CM000671.2:g.133255478_133255479del	GRCh38
NC_000009.11:g.136130865_136130866del , CM000671.1:g.136130865_136130866del	GRCh37
NC_000009.10:g.135120686_135120687del	NCBI36
NG_006669.1:g.22196_22197del
NG_006669.2:g.24744_24745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1288_1289del
ENST00000647353.1:n.54-4320_54-4319del
ENST00000679909.1:c.28+19690_28+19691del	ENSP00000506089.1:n.28+19690_28+19691del
ENST00000453660.3:n.1270_1271del
ENST00000611156.4:c.*194_*195del	ENSP00000483265.1:n.*194_*195del
NM_020469.2:c.*194_*195del	NP_065202.2:n.*194_*195del
NM_020469.3:c.*194_*195del	NP_065202.2:n.*194_*195del