Canonical Allele Identifier: CA2695233306

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369824_38369825delinsAG , CM000685.2:g.38369824_38369825delinsAG	GRCh38
NC_000023.10:g.38229077_38229078delinsAG , CM000685.1:g.38229077_38229078delinsAG	GRCh37
NC_000023.9:g.38114021_38114022delinsAG	NCBI36
NG_008471.1:g.22342_22343delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.245_246delinsAG MANE Select	ENSP00000039007.4:p.Leu82Ter
ENST00000643344.1:c.245_246delinsAG	ENSP00000496606.1:p.Leu82Ter
ENST00000039007.4:c.245_246delinsAG	ENSP00000039007.4:p.Leu82Ter
ENST00000465127.1:c.172-296297_172-296296delinsAG	ENSP00000417050.1:n.172-296297_172-296296delinsAG
ENST00000488812.1:n.337_338delinsAG
NM_000531.5:c.245_246delinsAG	NP_000522.3:p.Leu82Ter
XM_017029556.1:c.245_246delinsAG	XP_016885045.1:p.Leu82Ter
NM_000531.6:c.245_246delinsAG MANE Select	NP_000522.3:p.Leu82Ter