Canonical Allele Identifier: CA2740092106

Gene: OTC

Linked Data

• ClinVar Variation Id: 2972474
• ClinVar RCV Id: RCV003835600

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401444del , CM000685.2:g.38401444del	GRCh38
NC_000023.10:g.38260697del , CM000685.1:g.38260697del	GRCh37
NC_000023.9:g.38145641del	NCBI36
NG_008471.1:g.53962del

Transcript Alleles

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