Canonical Allele Identifier: CA2692330351

Gene: ABO

Linked Data

• gnomAD v4: 9-133255954-GTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255956_133255959del , CM000671.2:g.133255956_133255959del	GRCh38
NC_000009.11:g.136131343_136131346del , CM000671.1:g.136131343_136131346del	GRCh37
NC_000009.10:g.135121164_135121167del	NCBI36
NG_006669.1:g.21710_21713del
NG_006669.2:g.24258_24261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.802_805del
ENST00000647353.1:n.54-4806_54-4803del
ENST00000679909.1:c.28+19204_28+19207del	ENSP00000506089.1:n.28+19204_28+19207del
ENST00000453660.3:n.784_787del
ENST00000538324.2:c.770_773del	ENSP00000483018.1:p.Lys257ThrfsTer30
ENST00000611156.4:c.770_773del	ENSP00000483265.1:p.Lys257ThrfsTer30
NM_020469.2:c.773_776del	NP_065202.2:p.Lys258ThrfsTer30
NM_020469.3:c.773_776del	NP_065202.2:p.Lys258ThrfsTer30