Canonical Allele Identifier: CA2693442146
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367173del , CM000685.2:g.38367173del GRCh38
NC_000023.10:g.38226426del , CM000685.1:g.38226426del GRCh37
NC_000023.9:g.38111370del NCBI36
NG_008471.1:g.19691del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-118del MANE Select ENSP00000039007.4:n.78-118del
ENST00000643344.1:c.78-118del ENSP00000496606.1:n.78-118del
ENST00000039007.4:c.78-118del ENSP00000039007.4:n.78-118del
ENST00000465127.1:c.172-298948del ENSP00000417050.1:n.172-298948del
ENST00000488812.1:n.170-118del
NM_000531.5:c.78-118del NP_000522.3:n.78-118del
XM_017029556.1:c.78-118del XP_016885045.1:n.78-118del
NM_000531.6:c.78-118del MANE Select NP_000522.3:n.78-118del