Canonical Allele Identifier: CA2424870752
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs2068300140

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367174_38367177del , CM000685.2:g.38367174_38367177del GRCh38
NC_000023.10:g.38226427_38226430del , CM000685.1:g.38226427_38226430del GRCh37
NC_000023.9:g.38111371_38111374del NCBI36
NG_008471.1:g.19692_19695del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-117_78-114del MANE Select ENSP00000039007.4:n.78-117_78-114del
ENST00000643344.1:c.78-117_78-114del ENSP00000496606.1:n.78-117_78-114del
ENST00000039007.4:c.78-117_78-114del ENSP00000039007.4:n.78-117_78-114del
ENST00000465127.1:c.172-298947_172-298944del ENSP00000417050.1:n.172-298947_172-298944...
ENST00000488812.1:n.170-117_170-114del
NM_000531.5:c.78-117_78-114del NP_000522.3:n.78-117_78-114del
XM_017029556.1:c.78-117_78-114del XP_016885045.1:n.78-117_78-114del
NM_000531.6:c.78-117_78-114del MANE Select NP_000522.3:n.78-117_78-114del