Canonical Allele Identifier: CA224765
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97307
ClinVar RCV Id: RCV000083553
dbSNP Id: rs72558438
MyVariant Identifiers: chrX:g.38268142_38268150del (hg19) chrX:g.38408889_38408897del (hg38)
PubMed: PMID:9452049
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408889_38408897del , CM000685.2:g.38408889_38408897del GRCh38
NC_000023.10:g.38268142_38268150del , CM000685.1:g.38268142_38268150del GRCh37
NC_000023.9:g.38153086_38153094del NCBI36
NG_008471.1:g.61407_61415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.731_739del MANE Select ENSP00000039007.4:p.Leu244_Thr247delinsPro
ENST00000643344.1:c.*481_*489del ENSP00000496606.1:n.*481_*489del
ENST00000039007.4:c.731_739del ENSP00000039007.4:p.Leu244_Thr247delinsPro
ENST00000465127.1:c.172-257232_172-257224del ENSP00000417050.1:n.172-257232_172-257224del
NM_000531.5:c.731_739del NP_000522.3:p.Leu244_Thr247delinsPro
XM_017029556.1:c.731_739del XP_016885045.1:p.Leu244_Thr247delinsPro
NM_000531.6:c.731_739del MANE Select NP_000522.3:p.Leu244_Thr247delinsPro
Search 100 bp 5'
Search 100 bp 3'