Canonical Allele Identifier: CA224466
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367353_38367354insG , CM000685.2:g.38367353_38367354insG GRCh38
NC_000023.10:g.38226606_38226607insG , CM000685.1:g.38226606_38226607insG GRCh37
NC_000023.9:g.38111550_38111551insG NCBI36
NG_008471.1:g.19871_19872insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.140_141insG MANE Select ENSP00000039007.4:p.Asn47LysfsTer8
ENST00000643344.1:c.140_141insG ENSP00000496606.1:p.Asn47LysfsTer8
ENST00000039007.4:c.140_141insG ENSP00000039007.4:p.Asn47LysfsTer8
ENST00000465127.1:c.172-298768_172-298767insG ENSP00000417050.1:n.172-298768_172-298767insG
ENST00000488812.1:n.232_233insG
NM_000531.5:c.140_141insG NP_000522.3:p.Asn47LysfsTer8
XM_017029556.1:c.140_141insG XP_016885045.1:p.Asn47LysfsTer8
NM_000531.6:c.140_141insG MANE Select NP_000522.3:p.Asn47LysfsTer8
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