Canonical Allele Identifier: CA1129714721

Gene: ABO

Linked Data

• dbSNP Id: rs1834545649
• gnomAD v3: 9-133255339-GGT-G
• gnomAD v4: 9-133255339-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255344_133255345del , CM000671.2:g.133255344_133255345del	GRCh38
NC_000009.11:g.136130731_136130732del , CM000671.1:g.136130731_136130732del	GRCh37
NC_000009.10:g.135120552_135120553del	NCBI36
NG_006669.1:g.22327_22328del
NG_006669.2:g.24875_24876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1419_1420del
ENST00000647353.1:n.54-4189_54-4188del
ENST00000679909.1:c.28+19821_28+19822del	ENSP00000506089.1:n.28+19821_28+19822del
ENST00000453660.3:n.1401_1402del
ENST00000611156.4:c.*325_*326del	ENSP00000483265.1:n.*325_*326del
NM_020469.2:c.*325_*326del	NP_065202.2:n.*325_*326del
NM_020469.3:c.*325_*326del	NP_065202.2:n.*325_*326del