Canonical Allele Identifier: CA1129714777

Gene: ABO

Linked Data

• dbSNP Id: rs1279127212
• gnomAD v3: 9-133255392-CTGTG-C
• gnomAD v4: 9-133255392-CTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255398_133255401del , CM000671.2:g.133255398_133255401del	GRCh38
NC_000009.11:g.136130785_136130788del , CM000671.1:g.136130785_136130788del	GRCh37
NC_000009.10:g.135120606_135120609del	NCBI36
NG_006669.1:g.22272_22275del
NG_006669.2:g.24820_24823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1364_1367del
ENST00000647353.1:n.54-4244_54-4241del
ENST00000679909.1:c.28+19766_28+19769del	ENSP00000506089.1:n.28+19766_28+19769del
ENST00000453660.3:n.1346_1349del
ENST00000611156.4:c.*270_*273del	ENSP00000483265.1:n.*270_*273del
NM_020469.2:c.*270_*273del	NP_065202.2:n.*270_*273del
NM_020469.3:c.*270_*273del	NP_065202.2:n.*270_*273del