Canonical Allele Identifier: CA2580616976

Gene: OTC

Linked Data

• ClinVar Variation Id: 1725161
• ClinVar RCV Id: RCV002308220

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369840_38369841del , CM000685.2:g.38369840_38369841del	GRCh38
NC_000023.10:g.38229093_38229094del , CM000685.1:g.38229093_38229094del	GRCh37
NC_000023.9:g.38114037_38114038del	NCBI36
NG_008471.1:g.22358_22359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.261_262del MANE Select	ENSP00000039007.4:p.Arg89LysfsTer?
ENST00000643344.1:c.261_262del	ENSP00000496606.1:p.Arg89LysfsTer12
ENST00000039007.4:c.261_262del	ENSP00000039007.4:p.Arg89LysfsTer?
ENST00000465127.1:c.172-296281_172-296280del	ENSP00000417050.1:n.172-296281_172-296280del
ENST00000488812.1:n.353_353+1del
NM_000531.5:c.261_262del	NP_000522.3:p.Arg89LysfsTer?
XM_017029556.1:c.261_262del	XP_016885045.1:p.Arg89LysfsTer?
NM_000531.6:c.261_262del MANE Select	NP_000522.3:p.Arg89LysfsTer?