Canonical Allele Identifier: CA913187826
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 3076057
ClinVar RCV Id: RCV004018375
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409023_38409024del , CM000685.2:g.38409023_38409024del GRCh38
NC_000023.10:g.38268276_38268277del , CM000685.1:g.38268276_38268277del GRCh37
NC_000023.9:g.38153220_38153221del NCBI36
NG_008471.1:g.61541_61542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.865_866del MANE Select ENSP00000039007.4:p.Lys289AspfsTer3
ENST00000643344.1:c.*615_*616del ENSP00000496606.1:n.*615_*616del
ENST00000039007.4:c.865_866del ENSP00000039007.4:p.Lys289AspfsTer3
ENST00000465127.1:c.172-257098_172-257097del ENSP00000417050.1:n.172-257098_172-257097del
NM_000531.5:c.865_866del NP_000522.3:p.Lys289AspfsTer3
XM_017029556.1:c.865_866del XP_016885045.1:p.Lys289AspfsTer12
NM_000531.6:c.865_866del MANE Select NP_000522.3:p.Lys289AspfsTer3
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