Canonical Allele Identifier: CA2692330350
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133255952-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255953del , CM000671.2:g.133255953del GRCh38
NC_000009.11:g.136131340del , CM000671.1:g.136131340del GRCh37
NC_000009.10:g.135121161del NCBI36
NG_006669.1:g.21715del
NG_006669.2:g.24263del

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.807del
ENST00000647353.1:n.54-4801del
ENST00000679909.1:c.28+19209del ENSP00000506089.1:n.28+19209del
ENST00000453660.3:n.789del
ENST00000538324.2:c.775del ENSP00000483018.1:p.Glu259ArgfsTer29
ENST00000611156.4:c.775del ENSP00000483265.1:p.Glu259ArgfsTer29
NM_020469.2:c.778del NP_065202.2:p.Glu260ArgfsTer29
NM_020469.3:c.778del NP_065202.2:p.Glu260ArgfsTer29
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