Canonical Allele Identifier: CA224462
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97111
dbSNP Id: rs72554313

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367353del , CM000685.2:g.38367353del GRCh38
NC_000023.10:g.38226606del , CM000685.1:g.38226606del GRCh37
NC_000023.9:g.38111550del NCBI36
NG_008471.1:g.19871del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.140del MANE Select ENSP00000039007.4:p.Asn47ThrfsTer17
ENST00000643344.1:c.140del ENSP00000496606.1:p.Asn47ThrfsTer17
ENST00000039007.4:c.140del ENSP00000039007.4:p.Asn47ThrfsTer17
ENST00000465127.1:c.172-298768del ENSP00000417050.1:n.172-298768del
ENST00000488812.1:n.232del
NM_000531.5:c.140del NP_000522.3:p.Asn47ThrfsTer17
XM_017029556.1:c.140del XP_016885045.1:p.Asn47ThrfsTer17
NM_000531.6:c.140del MANE Select NP_000522.3:p.Asn47ThrfsTer17