Canonical Allele Identifier: CA2424871695

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369876_38369877delinsAG , CM000685.2:g.38369876_38369877delinsAG	GRCh38
NC_000023.10:g.38229129_38229130delinsAG , CM000685.1:g.38229129_38229130delinsAG	GRCh37
NC_000023.9:g.38114073_38114074delinsAG	NCBI36
NG_008471.1:g.22394_22395delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.297_298delinsAG MANE Select	ENSP00000039007.4:p.Thr99=
ENST00000643344.1:c.297_298delinsAG	ENSP00000496606.1:p.Thr99=
ENST00000039007.4:c.297_298delinsAG	ENSP00000039007.4:p.Thr99=
ENST00000465127.1:c.172-296245_172-296244delinsAG	ENSP00000417050.1:n.172-296245_172-296244delinsAG
ENST00000488812.1:n.353+36_353+37delinsAG
NM_000531.5:c.297_298delinsAG	NP_000522.3:p.Thr99=
XM_017029556.1:c.297_298delinsAG	XP_016885045.1:p.Thr99=
NM_000531.6:c.297_298delinsAG MANE Select	NP_000522.3:p.Thr99=