Canonical Allele Identifier: CA2695233315
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403675_38403676del , CM000685.2:g.38403675_38403676del GRCh38
NC_000023.10:g.38262928_38262929del , CM000685.1:g.38262928_38262929del GRCh37
NC_000023.9:g.38147872_38147873del NCBI36
NG_008471.1:g.56193_56194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.598_599del MANE Select ENSP00000039007.4:p.Ile200ProfsTer24
ENST00000643344.1:c.*348_*349del ENSP00000496606.1:n.*348_*349del
ENST00000039007.4:c.598_599del ENSP00000039007.4:p.Ile200ProfsTer24
ENST00000465127.1:c.172-262446_172-262445del ENSP00000417050.1:n.172-262446_172-262445del
NM_000531.5:c.598_599del NP_000522.3:p.Ile200ProfsTer24
XM_017029556.1:c.598_599del XP_016885045.1:p.Ile200ProfsTer24
NM_000531.6:c.598_599del MANE Select NP_000522.3:p.Ile200ProfsTer24
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