Canonical Allele Identifier: CA2693442880
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401441_38401444del , CM000685.2:g.38401441_38401444del GRCh38
NC_000023.10:g.38260694_38260697del , CM000685.1:g.38260694_38260697del GRCh37
NC_000023.9:g.38145638_38145641del NCBI36
NG_008471.1:g.53959_53962del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+13_540+16del MANE Select ENSP00000039007.4:n.540+13_540+16del
ENST00000643344.1:c.*290+13_*290+16del ENSP00000496606.1:n.*290+13_*290+16del
ENST00000039007.4:c.540+13_540+16del ENSP00000039007.4:n.540+13_540+16del
ENST00000465127.1:c.172-264680_172-264677del ENSP00000417050.1:n.172-264680_172-264677...
ENST00000488812.1:n.577+13_577+16del
NM_000531.5:c.540+13_540+16del NP_000522.3:n.540+13_540+16del
XM_017029556.1:c.540+13_540+16del XP_016885045.1:n.540+13_540+16del
NM_000531.6:c.540+13_540+16del MANE Select NP_000522.3:n.540+13_540+16del