Canonical Allele Identifier: CA224817
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97345
ClinVar RCV Id: RCV000083593
dbSNP Id: rs72558457
MyVariant Identifiers: chrX:g.38271122del (hg19) chrX:g.38411869del (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411870del , CM000685.2:g.38411870del GRCh38
NC_000023.10:g.38271123del , CM000685.1:g.38271123del GRCh37
NC_000023.9:g.38156067del NCBI36
NG_008471.1:g.64388del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.876del MANE Select ENSP00000039007.4:p.Val293LeufsTer?
ENST00000643344.1:c.*626del ENSP00000496606.1:n.*626del
ENST00000039007.4:c.876del ENSP00000039007.4:p.Val293LeufsTer?
ENST00000465127.1:c.172-254251del ENSP00000417050.1:n.172-254251del
NM_000531.5:c.876del NP_000522.3:p.Val293LeufsTer?
XM_017029556.1:c.*9del XP_016885045.1:n.*9del
NM_000531.6:c.876del MANE Select NP_000522.3:p.Val293LeufsTer?
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