Canonical Allele Identifier: CA674252959

Gene: OTOG

Linked Data

• dbSNP Id: rs1344999827
• gnomAD v3: 11-17632215-C-CT
• gnomAD v4: 11-17632215-C-CT
• MyVariant Identifiers: chr11:g.17653762_17653763insT (hg19) ; chr11:g.17632215_17632216insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17632216dup , CM000673.2:g.17632216dup	GRCh38
NC_000011.9:g.17653763dup , CM000673.1:g.17653763dup	GRCh37
NC_000011.8:g.17610339dup	NCBI36
NG_033191.1:g.89844dup
NG_033191.2:g.89844dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000399391.7:c.7098dup	ENSP00000382323.2:p.Asp2367Ter
ENST00000399397.6:c.7062dup MANE Select	ENSP00000382329.2:p.Asp2355Ter
ENST00000342528.2:c.4116dup	ENSP00000341666.2:p.Asp1373Ter
ENST00000399391.6:c.7098dup	ENSP00000382323.2:p.Asp2367Ter
ENST00000399397.5:c.7062dup	ENSP00000382329.2:p.Asp2355Ter
NM_001277269.1:c.7098dup	NP_001264198.1:p.Asp2367Ter
NM_001292063.1:c.7062dup	NP_001278992.1:p.Asp2355Ter
NM_001277269.2:c.7098dup	NP_001264198.1:p.Asp2367Ter
NM_001292063.2:c.7062dup MANE Select	NP_001278992.1:p.Asp2355Ter