Canonical Allele Identifier: CA2820489183

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369750_38369751insTTTTTCC , CM000685.2:g.38369750_38369751insTTTTTCC	GRCh38
NC_000023.10:g.38229003_38229004insTTTTTCC , CM000685.1:g.38229003_38229004insTTTTTCC	GRCh37
NC_000023.9:g.38113947_38113948insTTTTTCC	NCBI36
NG_008471.1:g.22268_22269insTTTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-46_217-45insTTTTTCC MANE Select	ENSP00000039007.4:n.217-46_217-45insTTTTTCC
ENST00000643344.1:c.217-46_217-45insTTTTTCC	ENSP00000496606.1:n.217-46_217-45insTTTTTCC
ENST00000039007.4:c.217-46_217-45insTTTTTCC	ENSP00000039007.4:n.217-46_217-45insTTTTTCC
ENST00000465127.1:c.172-296371_172-296370insTTTTTCC	ENSP00000417050.1:n.172-296371_172-296370insTTTTTCC
ENST00000488812.1:n.309-46_309-45insTTTTTCC
NM_000531.5:c.217-46_217-45insTTTTTCC	NP_000522.3:n.217-46_217-45insTTTTTCC
XM_017029556.1:c.217-46_217-45insTTTTTCC	XP_016885045.1:n.217-46_217-45insTTTTTCC
NM_000531.6:c.217-46_217-45insTTTTTCC MANE Select	NP_000522.3:n.217-46_217-45insTTTTTCC