Canonical Allele Identifier: CA2790596449

Gene: OTOG

Linked Data

• ClinVar Variation Id: 3075847
• ClinVar RCV Id: RCV004018165

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553436_17553445del , CM000673.2:g.17553436_17553445del	GRCh38
NC_000011.9:g.17574983_17574992del , CM000673.1:g.17574983_17574992del	GRCh37
NC_000011.8:g.17531559_17531568del	NCBI36
NG_033191.1:g.11064_11073del
NG_033191.2:g.11064_11073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.493_502del	ENSP00000382323.2:p.Gly165ThrfsTer?
ENST00000399397.6:c.457_466del MANE Select	ENSP00000382329.2:p.Gly153ThrfsTer?
ENST00000399391.6:c.493_502del	ENSP00000382323.2:p.Gly165ThrfsTer?
ENST00000399397.5:c.457_466del	ENSP00000382329.2:p.Gly153ThrfsTer?
ENST00000498332.5:n.363_372del
NM_001277269.1:c.493_502del	NP_001264198.1:p.Gly165ThrfsTer?
NM_001292063.1:c.457_466del	NP_001278992.1:p.Gly153ThrfsTer?
NM_001277269.2:c.493_502del	NP_001264198.1:p.Gly165ThrfsTer?
NM_001292063.2:c.457_466del MANE Select	NP_001278992.1:p.Gly153ThrfsTer?