Canonical Allele Identifier: CA2612679581

Gene: OTOG

Linked Data

• gnomAD v4: 11-17553416-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17553418del , CM000673.2:g.17553418del	GRCh38
NC_000011.9:g.17574965del , CM000673.1:g.17574965del	GRCh37
NC_000011.8:g.17531541del	NCBI36
NG_033191.1:g.11046del
NG_033191.2:g.11046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.475del	ENSP00000382323.2:p.His159ThrfsTer?
ENST00000399397.6:c.439del MANE Select	ENSP00000382329.2:p.His147ThrfsTer?
ENST00000399391.6:c.475del	ENSP00000382323.2:p.His159ThrfsTer?
ENST00000399397.5:c.439del	ENSP00000382329.2:p.His147ThrfsTer?
ENST00000428619.1:c.256del	ENSP00000399057.2:p.His86ThrfsTer?
ENST00000498332.5:n.345del
NM_001277269.1:c.475del	NP_001264198.1:p.His159ThrfsTer?
NM_001292063.1:c.439del	NP_001278992.1:p.His147ThrfsTer?
NM_001277269.2:c.475del	NP_001264198.1:p.His159ThrfsTer?
NM_001292063.2:c.439del MANE Select	NP_001278992.1:p.His147ThrfsTer?