Canonical Allele Identifier: CA1139667387

Gene: OTC

Linked Data

• ClinVar Variation Id: 916070
• ClinVar RCV Id: RCV001171571
• dbSNP Id: rs2068301848

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367356_38367357del , CM000685.2:g.38367356_38367357del	GRCh38
NC_000023.10:g.38226609_38226610del , CM000685.1:g.38226609_38226610del	GRCh37
NC_000023.9:g.38111553_38111554del	NCBI36
NG_008471.1:g.19874_19875del

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.143_144del MANE Select	ENSP00000039007.4:p.Phe48TyrfsTer6
ENST00000643344.1:c.143_144del	ENSP00000496606.1:p.Phe48TyrfsTer6
ENST00000039007.4:c.143_144del	ENSP00000039007.4:p.Phe48TyrfsTer6
ENST00000465127.1:c.172-298765_172-298764del	ENSP00000417050.1:n.172-298765_172-298764...
ENST00000488812.1:n.235_236del
NM_000531.5:c.143_144del	NP_000522.3:p.Phe48TyrfsTer6
XM_017029556.1:c.143_144del	XP_016885045.1:p.Phe48TyrfsTer6
NM_000531.6:c.143_144del MANE Select	NP_000522.3:p.Phe48TyrfsTer6