Canonical Allele Identifier: CA2579584805

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401440del , CM000685.2:g.38401440del	GRCh38
NC_000023.10:g.38260693del , CM000685.1:g.38260693del	GRCh37
NC_000023.9:g.38145637del	NCBI36
NG_008471.1:g.53958del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.540+12del MANE Select	ENSP00000039007.4:n.540+12del
ENST00000643344.1:c.*290+12del	ENSP00000496606.1:n.*290+12del
ENST00000039007.4:c.540+12del	ENSP00000039007.4:n.540+12del
ENST00000465127.1:c.172-264681del	ENSP00000417050.1:n.172-264681del
ENST00000488812.1:n.577+12del
NM_000531.5:c.540+12del	NP_000522.3:n.540+12del
XM_017029556.1:c.540+12del	XP_016885045.1:n.540+12del
NM_000531.6:c.540+12del MANE Select	NP_000522.3:n.540+12del