Canonical Allele Identifier: CA2695233289

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367346_38367347del , CM000685.2:g.38367346_38367347del	GRCh38
NC_000023.10:g.38226599_38226600del , CM000685.1:g.38226599_38226600del	GRCh37
NC_000023.9:g.38111543_38111544del	NCBI36
NG_008471.1:g.19864_19865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.133_134del MANE Select	ENSP00000039007.4:p.Leu45LysfsTer9
ENST00000643344.1:c.133_134del	ENSP00000496606.1:p.Leu45LysfsTer9
ENST00000039007.4:c.133_134del	ENSP00000039007.4:p.Leu45LysfsTer9
ENST00000465127.1:c.172-298775_172-298774del	ENSP00000417050.1:n.172-298775_172-298774del
ENST00000488812.1:n.225_226del
NM_000531.5:c.133_134del	NP_000522.3:p.Leu45LysfsTer9
XM_017029556.1:c.133_134del	XP_016885045.1:p.Leu45LysfsTer9
NM_000531.6:c.133_134del MANE Select	NP_000522.3:p.Leu45LysfsTer9