Canonical Allele Identifier: CA1129714740

Gene: ABO

Linked Data

• dbSNP Id: rs1834546178
• gnomAD v3: 9-133255361-GGT-G
• gnomAD v4: 9-133255361-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255371_133255372del , CM000671.2:g.133255371_133255372del	GRCh38
NC_000009.11:g.136130758_136130759del , CM000671.1:g.136130758_136130759del	GRCh37
NC_000009.10:g.135120579_135120580del	NCBI36
NG_006669.1:g.22305_22306del
NG_006669.2:g.24853_24854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1397_1398del
ENST00000647353.1:n.54-4211_54-4210del
ENST00000679909.1:c.28+19799_28+19800del	ENSP00000506089.1:n.28+19799_28+19800del
ENST00000453660.3:n.1379_1380del
ENST00000611156.4:c.*303_*304del	ENSP00000483265.1:n.*303_*304del
NM_020469.2:c.*303_*304del	NP_065202.2:n.*303_*304del
NM_020469.3:c.*303_*304del	NP_065202.2:n.*303_*304del