Canonical Allele Identifier: CA2692330759

Gene: ABO

Linked Data

• gnomAD v4: 9-133257994-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257994_133257995insGGT , CM000671.2:g.133257994_133257995insGGT	GRCh38
NC_000009.11:g.136133384_136133385insGGT , CM000671.1:g.136133384_136133385insGGT	GRCh37
NC_000009.10:g.135123205_135123206insGGT	NCBI36
NG_006669.1:g.19669_19670insACC
NG_006669.2:g.22220_22221insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.269+102_269+103insACC
ENST00000647353.1:n.54-6843_54-6842insACC
ENST00000651471.1:n.329+47_329+48insACC
ENST00000679909.1:c.28+17167_28+17168insACC	ENSP00000506089.1:n.28+17167_28+17168insACC
ENST00000453660.3:n.251+102_251+103insACC
ENST00000538324.2:c.239+102_239+103insACC	ENSP00000483018.1:n.239+102_239+103insACC
ENST00000611156.4:c.239+102_239+103insACC	ENSP00000483265.1:n.239+102_239+103insACC
NM_020469.2:c.239+102_239+103insACC	NP_065202.2:n.239+102_239+103insACC
NM_020469.3:c.239+102_239+103insACC	NP_065202.2:n.239+102_239+103insACC