Canonical Allele Identifier: CA2820487884
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403826del , CM000685.2:g.38403826del GRCh38
NC_000023.10:g.38263079del , CM000685.1:g.38263079del GRCh37
NC_000023.9:g.38148023del NCBI36
NG_008471.1:g.56344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.663+86del MANE Select ENSP00000039007.4:n.663+86del
ENST00000643344.1:c.*413+86del ENSP00000496606.1:n.*413+86del
ENST00000039007.4:c.663+86del ENSP00000039007.4:n.663+86del
ENST00000465127.1:c.172-262295del ENSP00000417050.1:n.172-262295del
NM_000531.5:c.663+86del NP_000522.3:n.663+86del
XM_017029556.1:c.663+86del XP_016885045.1:n.663+86del
NM_000531.6:c.663+86del MANE Select NP_000522.3:n.663+86del