Canonical Allele Identifier: CA2693443458
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369999del , CM000685.2:g.38369999del GRCh38
NC_000023.10:g.38229252del , CM000685.1:g.38229252del GRCh37
NC_000023.9:g.38114196del NCBI36
NG_008471.1:g.22517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+122del MANE Select ENSP00000039007.4:n.298+122del
ENST00000643344.1:c.298+122del ENSP00000496606.1:n.298+122del
ENST00000039007.4:c.298+122del ENSP00000039007.4:n.298+122del
ENST00000465127.1:c.172-296122del ENSP00000417050.1:n.172-296122del
ENST00000488812.1:n.353+159del
NM_000531.5:c.298+122del NP_000522.3:n.298+122del
XM_017029556.1:c.298+122del XP_016885045.1:n.298+122del
NM_000531.6:c.298+122del MANE Select NP_000522.3:n.298+122del