Canonical Allele Identifier: CA2692330346
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133255883-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255886del , CM000671.2:g.133255886del GRCh38
NC_000009.11:g.136131273del , CM000671.1:g.136131273del GRCh37
NC_000009.10:g.135121094del NCBI36
NG_006669.1:g.21784del
NG_006669.2:g.24332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.876del
ENST00000647353.1:n.54-4732del
ENST00000679909.1:c.28+19278del ENSP00000506089.1:n.28+19278del
ENST00000453660.3:n.858del
ENST00000538324.2:c.844del ENSP00000483018.1:p.Ala282ProfsTer6
ENST00000611156.4:c.844del ENSP00000483265.1:p.Ala282ProfsTer6
NM_020469.2:c.847del NP_065202.2:p.Ala283ProfsTer6
NM_020469.3:c.847del NP_065202.2:p.Ala283ProfsTer6
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