Canonical Allele Identifier: CA645557764

Gene: ABO

Linked Data

• gnomAD v4: 9-133257520-G-GC
• COSMIC: COSM4603530

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257520_133257521insC , CM000671.2:g.133257520_133257521insC	GRCh38
NC_000009.11:g.136132907_136132908insC , CM000671.1:g.136132907_136132908insC	GRCh37
NC_000009.10:g.135122728_135122729insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.291_292insG
ENST00000647353.1:n.54-6369_54-6368insG
ENST00000651471.1:n.329+521_329+522insG
ENST00000679909.1:c.28+17641_28+17642insG	ENSP00000506089.1:n.28+17641_28+17642insG
ENST00000453660.3:n.273_274insG
ENST00000538324.2:c.259_260insG	ENSP00000483018.1:p.Thr87SerfsTer?
ENST00000611156.4:c.259_260insG	ENSP00000483265.1:p.Thr87SerfsTer?