Canonical Allele Identifier: CA2424884356
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408937_38408939delinsTAA , CM000685.2:g.38408937_38408939delinsTAA GRCh38
NC_000023.10:g.38268190_38268192delinsTAA , CM000685.1:g.38268190_38268192delinsTAA GRCh37
NC_000023.9:g.38153134_38153136delinsTAA NCBI36
NG_008471.1:g.61455_61457delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.779_781delinsTAA MANE Select ENSP00000039007.4:p.Leu260=
ENST00000643344.1:c.*529_*531delinsTAA ENSP00000496606.1:n.*529_*531delinsTAA
ENST00000039007.4:c.779_781delinsTAA ENSP00000039007.4:p.Leu260=
ENST00000465127.1:c.172-257184_172-257182delinsTAA ENSP00000417050.1:n.172-257184_172-257182delinsTAA
NM_000531.5:c.779_781delinsTAA NP_000522.3:p.Leu260=
XM_017029556.1:c.779_781delinsTAA XP_016885045.1:p.Leu260=
NM_000531.6:c.779_781delinsTAA MANE Select NP_000522.3:p.Leu260=
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