Canonical Allele Identifier: CA2820489194

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369770_38369771insCGCTGCTAGTTTTAAG , CM000685.2:g.38369770_38369771insCGCTGCTAGTTTTAAG	GRCh38
NC_000023.10:g.38229023_38229024insCGCTGCTAGTTTTAAG , CM000685.1:g.38229023_38229024insCGCTGCTAGTTTTAAG	GRCh37
NC_000023.9:g.38113967_38113968insCGCTGCTAGTTTTAAG	NCBI36
NG_008471.1:g.22288_22289insCGCTGCTAGTTTTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-26_217-25insCGCTGCTAGTTTTAAG MANE Select	ENSP00000039007.4:n.217-26_217-25insCGCTGCTAGTTTTAAG
ENST00000643344.1:c.217-26_217-25insCGCTGCTAGTTTTAAG	ENSP00000496606.1:n.217-26_217-25insCGCTGCTAGTTTTAAG
ENST00000039007.4:c.217-26_217-25insCGCTGCTAGTTTTAAG	ENSP00000039007.4:n.217-26_217-25insCGCTGCTAGTTTTAAG
ENST00000465127.1:c.172-296351_172-296350insCGCTGCTAGTTTTAAG	ENSP00000417050.1:n.172-296351_172-296350insCGCTGCTAGTTTTAAG
ENST00000488812.1:n.309-26_309-25insCGCTGCTAGTTTTAAG
NM_000531.5:c.217-26_217-25insCGCTGCTAGTTTTAAG	NP_000522.3:n.217-26_217-25insCGCTGCTAGTTTTAAG
XM_017029556.1:c.217-26_217-25insCGCTGCTAGTTTTAAG	XP_016885045.1:n.217-26_217-25insCGCTGCTAGTTTTAAG
NM_000531.6:c.217-26_217-25insCGCTGCTAGTTTTAAG MANE Select	NP_000522.3:n.217-26_217-25insCGCTGCTAGTTTTAAG