Canonical Allele Identifier: CA2573158666
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1395169
ClinVar RCV Id: RCV001927563
dbSNP Id: rs2147345229
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408980del , CM000685.2:g.38408980del GRCh38
NC_000023.10:g.38268233del , CM000685.1:g.38268233del GRCh37
NC_000023.9:g.38153177del NCBI36
NG_008471.1:g.61498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.822del MANE Select ENSP00000039007.4:p.Lys276SerfsTer13
ENST00000643344.1:c.*572del ENSP00000496606.1:n.*572del
ENST00000039007.4:c.822del ENSP00000039007.4:p.Lys276SerfsTer13
ENST00000465127.1:c.172-257141del ENSP00000417050.1:n.172-257141del
NM_000531.5:c.822del NP_000522.3:p.Lys276SerfsTer13
XM_017029556.1:c.822del XP_016885045.1:p.Lys276SerfsTer13
NM_000531.6:c.822del MANE Select NP_000522.3:p.Lys276SerfsTer13
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