Canonical Allele Identifier: CA2612690236

Gene: OTOG

Linked Data

• gnomAD v4: 11-17635151-CGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635153_17635156del , CM000673.2:g.17635153_17635156del	GRCh38
NC_000011.9:g.17656700_17656703del , CM000673.1:g.17656700_17656703del	GRCh37
NC_000011.8:g.17613276_17613279del	NCBI36
NG_033191.1:g.92781_92784del
NG_033191.2:g.92781_92784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7695_7698del	ENSP00000382323.2:p.Leu2566GlyfsTer?
ENST00000399397.6:c.7659_7662del MANE Select	ENSP00000382329.2:p.Leu2554GlyfsTer?
ENST00000342528.2:c.4322-457_4322-454del	ENSP00000341666.2:n.4322-457_4322-454del
ENST00000399391.6:c.7695_7698del	ENSP00000382323.2:p.Leu2566GlyfsTer?
ENST00000399397.5:c.7659_7662del	ENSP00000382329.2:p.Leu2554GlyfsTer?
NM_001277269.1:c.7695_7698del	NP_001264198.1:p.Leu2566GlyfsTer?
NM_001292063.1:c.7659_7662del	NP_001278992.1:p.Leu2554GlyfsTer?
NM_001277269.2:c.7695_7698del	NP_001264198.1:p.Leu2566GlyfsTer?
NM_001292063.2:c.7659_7662del MANE Select	NP_001278992.1:p.Leu2554GlyfsTer?