Canonical Allele Identifier: CA2820489188

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369756_38369757insCCCC , CM000685.2:g.38369756_38369757insCCCC	GRCh38
NC_000023.10:g.38229009_38229010insCCCC , CM000685.1:g.38229009_38229010insCCCC	GRCh37
NC_000023.9:g.38113953_38113954insCCCC	NCBI36
NG_008471.1:g.22274_22275insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-40_217-39insCCCC MANE Select	ENSP00000039007.4:n.217-40_217-39insCCCC
ENST00000643344.1:c.217-40_217-39insCCCC	ENSP00000496606.1:n.217-40_217-39insCCCC
ENST00000039007.4:c.217-40_217-39insCCCC	ENSP00000039007.4:n.217-40_217-39insCCCC
ENST00000465127.1:c.172-296365_172-296364insCCCC	ENSP00000417050.1:n.172-296365_172-296364insCCCC
ENST00000488812.1:n.309-40_309-39insCCCC
NM_000531.5:c.217-40_217-39insCCCC	NP_000522.3:n.217-40_217-39insCCCC
XM_017029556.1:c.217-40_217-39insCCCC	XP_016885045.1:n.217-40_217-39insCCCC
NM_000531.6:c.217-40_217-39insCCCC MANE Select	NP_000522.3:n.217-40_217-39insCCCC