Canonical Allele Identifier: CA2573332142
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2502446
ClinVar RCV Id: RCV003229119
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369837dup , CM000685.2:g.38369837dup GRCh38
NC_000023.10:g.38229090dup , CM000685.1:g.38229090dup GRCh37
NC_000023.9:g.38114034dup NCBI36
NG_008471.1:g.22355dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.258dup MANE Select ENSP00000039007.4:p.Glu87Ter
ENST00000643344.1:c.258dup ENSP00000496606.1:p.Glu87Ter
ENST00000039007.4:c.258dup ENSP00000039007.4:p.Glu87Ter
ENST00000465127.1:c.172-296284dup ENSP00000417050.1:n.172-296284dup
ENST00000488812.1:n.350dup
NM_000531.5:c.258dup NP_000522.3:p.Glu87Ter
XM_017029556.1:c.258dup XP_016885045.1:p.Glu87Ter
NM_000531.6:c.258dup MANE Select NP_000522.3:p.Glu87Ter
Search 100 bp 5'
Search 100 bp 3'