Canonical Allele Identifier: CA2424884337

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408888_38408897delinsCTGTTGCTGA , CM000685.2:g.38408888_38408897delinsCTGTTGCTGA	GRCh38
NC_000023.10:g.38268141_38268150delinsCTGTTGCTGA , CM000685.1:g.38268141_38268150delinsCTGTTGCTGA	GRCh37
NC_000023.9:g.38153085_38153094delinsCTGTTGCTGA	NCBI36
NG_008471.1:g.61406_61415delinsCTGTTGCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.730_739delinsCTGTTGCTGA MANE Select	ENSP00000039007.4:p.Leu244=
ENST00000643344.1:c.*480_*489delinsCTGTTGCTGA	ENSP00000496606.1:n.*480_*489delinsCTGTTGCTGA
ENST00000039007.4:c.730_739delinsCTGTTGCTGA	ENSP00000039007.4:p.Leu244=
ENST00000465127.1:c.172-257233_172-257224delinsCTGTTGCTGA	ENSP00000417050.1:n.172-257233_172-257224delinsCTGTTGCTGA
NM_000531.5:c.730_739delinsCTGTTGCTGA	NP_000522.3:p.Leu244=
XM_017029556.1:c.730_739delinsCTGTTGCTGA	XP_016885045.1:p.Leu244=
NM_000531.6:c.730_739delinsCTGTTGCTGA MANE Select	NP_000522.3:p.Leu244=