Canonical Allele Identifier: CA2612679363

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553199-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553200dup , CM000673.2:g.17553200dup	GRCh38
NC_000011.9:g.17574747dup , CM000673.1:g.17574747dup	GRCh37
NC_000011.8:g.17531323dup	NCBI36
NG_033191.1:g.10828dup
NG_033191.2:g.10828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.410dup	ENSP00000382323.2:p.Cys138LeufsTer10
ENST00000399397.6:c.374dup MANE Select	ENSP00000382329.2:p.Cys126LeufsTer10
ENST00000399391.6:c.410dup	ENSP00000382323.2:p.Cys138LeufsTer10
ENST00000399397.5:c.374dup	ENSP00000382329.2:p.Cys126LeufsTer10
ENST00000428619.1:c.191dup	ENSP00000399057.2:p.Cys65LeufsTer10
ENST00000498332.5:n.280dup
NM_001277269.1:c.410dup	NP_001264198.1:p.Cys138LeufsTer10
NM_001292063.1:c.374dup	NP_001278992.1:p.Cys126LeufsTer10
NM_001277269.2:c.410dup	NP_001264198.1:p.Cys138LeufsTer10
NM_001292063.2:c.374dup MANE Select	NP_001278992.1:p.Cys126LeufsTer10