Canonical Allele Identifier: CA2692330566

Gene: ABO

Linked Data

• gnomAD v4: 9-133257521-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257522dup , CM000671.2:g.133257522dup	GRCh38
NC_000009.11:g.136132909dup , CM000671.1:g.136132909dup	GRCh37
NC_000009.10:g.135122730dup	NCBI36
NG_006669.1:g.20145dup
NG_006669.2:g.22693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.290dup
ENST00000647353.1:n.54-6370dup
ENST00000651471.1:n.329+520dup
ENST00000679909.1:c.28+17640dup	ENSP00000506089.1:n.28+17640dup
ENST00000453660.3:n.272dup
ENST00000538324.2:c.259-1dup	ENSP00000483018.1:n.259-1dup
ENST00000611156.4:c.259-1dup	ENSP00000483265.1:n.259-1dup
NM_020469.2:c.260dup	NP_065202.2:p.Thr88AspfsTer?
NM_020469.3:c.260dup	NP_065202.2:p.Thr88AspfsTer?