Canonical Allele Identifier: CA2692330343
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133255695-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255698del , CM000671.2:g.133255698del GRCh38
NC_000009.11:g.136131085del , CM000671.1:g.136131085del GRCh37
NC_000009.10:g.135120906del NCBI36
NG_006669.1:g.21972del
NG_006669.2:g.24520del

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1064del
ENST00000647353.1:n.54-4544del
ENST00000679909.1:c.28+19466del ENSP00000506089.1:n.28+19466del
ENST00000453660.3:n.1046del
ENST00000538324.2:c.1032del ENSP00000483018.1:p.Lys345ArgfsTer?
ENST00000611156.4:c.1032del ENSP00000483265.1:p.Lys345ArgfsTer?
NM_020469.2:c.1035del NP_065202.2:p.Lys346ArgfsTer?
NM_020469.3:c.1035del NP_065202.2:p.Lys346ArgfsTer?
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