Canonical Allele Identifier: CA2424871644

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369756_38369758delinsTAA , CM000685.2:g.38369756_38369758delinsTAA	GRCh38
NC_000023.10:g.38229009_38229011delinsTAA , CM000685.1:g.38229009_38229011delinsTAA	GRCh37
NC_000023.9:g.38113953_38113955delinsTAA	NCBI36
NG_008471.1:g.22274_22276delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-40_217-38delinsTAA MANE Select	ENSP00000039007.4:n.217-40_217-38delinsTAA
ENST00000643344.1:c.217-40_217-38delinsTAA	ENSP00000496606.1:n.217-40_217-38delinsTAA
ENST00000039007.4:c.217-40_217-38delinsTAA	ENSP00000039007.4:n.217-40_217-38delinsTAA
ENST00000465127.1:c.172-296365_172-296363delinsTAA	ENSP00000417050.1:n.172-296365_172-296363delinsTAA
ENST00000488812.1:n.309-40_309-38delinsTAA
NM_000531.5:c.217-40_217-38delinsTAA	NP_000522.3:n.217-40_217-38delinsTAA
XM_017029556.1:c.217-40_217-38delinsTAA	XP_016885045.1:n.217-40_217-38delinsTAA
NM_000531.6:c.217-40_217-38delinsTAA MANE Select	NP_000522.3:n.217-40_217-38delinsTAA