Canonical Allele Identifier: CA1129715816

Gene: ABO

Linked Data

• dbSNP Id: rs1834611442
• gnomAD v3: 9-133257177-T-TA
• gnomAD v4: 9-133257177-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257177_133257178insA , CM000671.2:g.133257177_133257178insA	GRCh38
NC_000009.11:g.136132564_136132565insA , CM000671.1:g.136132564_136132565insA	GRCh37
NC_000009.10:g.135122385_135122386insA	NCBI36
NG_006669.1:g.20490_20491insT
NG_006669.2:g.23038_23039insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+231_403+232insT
ENST00000647353.1:n.54-6026_54-6025insT
ENST00000651471.1:n.330-822_330-821insT
ENST00000679909.1:c.28+17984_28+17985insT	ENSP00000506089.1:n.28+17984_28+17985insT...
ENST00000453660.3:n.385+231_385+232insT
ENST00000538324.2:c.371+231_371+232insT	ENSP00000483018.1:n.371+231_371+232insT
ENST00000611156.4:c.371+231_371+232insT	ENSP00000483265.1:n.371+231_371+232insT
NM_020469.2:c.374+231_374+232insT	NP_065202.2:n.374+231_374+232insT
NM_020469.3:c.374+231_374+232insT	NP_065202.2:n.374+231_374+232insT