Canonical Allele Identifier: CA597904981

Gene: OTOG

Linked Data

• dbSNP Id: rs1565118200
• gnomAD v2: 11-17633871-T-TGCCTGTGAGTCATGGGATC
• gnomAD v4: 11-17612324-T-TGCCTGTGAGTCATGGGATC
• MyVariant Identifiers: chr11:g.17633871_17633872insGCCTGTGAGTCATGGGATC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612325_17612326insCCTGTGAGTCATGGGATCG , CM000673.2:g.17612325_17612326insCCTGTGAGTCATGGGATCG	GRCh38
NC_000011.9:g.17633872_17633873insCCTGTGAGTCATGGGATCG , CM000673.1:g.17633872_17633873insCCTGTGAGTCATGGGATCG	GRCh37
NC_000011.8:g.17590448_17590449insCCTGTGAGTCATGGGATCG	NCBI36
NG_033191.1:g.69953_69954insCCTGTGAGTCATGGGATCG
NG_033191.2:g.69953_69954insCCTGTGAGTCATGGGATCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6323_6324insCCTGTGAGTCATGGGATCG	ENSP00000382323.2:p.Ala2109LeufsTer2
ENST00000399397.6:c.6287_6288insCCTGTGAGTCATGGGATCG MANE Select	ENSP00000382329.2:p.Ala2097LeufsTer2
ENST00000342528.2:c.3341_3342insCCTGTGAGTCATGGGATCG	ENSP00000341666.2:p.Ala1115LeufsTer2
ENST00000399391.6:c.6323_6324insCCTGTGAGTCATGGGATCG	ENSP00000382323.2:p.Ala2109LeufsTer2
ENST00000399397.5:c.6287_6288insCCTGTGAGTCATGGGATCG	ENSP00000382329.2:p.Ala2097LeufsTer2
NM_001277269.1:c.6323_6324insCCTGTGAGTCATGGGATCG	NP_001264198.1:p.Ala2109LeufsTer2
NM_001292063.1:c.6287_6288insCCTGTGAGTCATGGGATCG	NP_001278992.1:p.Ala2097LeufsTer2
NM_001277269.2:c.6323_6324insCCTGTGAGTCATGGGATCG	NP_001264198.1:p.Ala2109LeufsTer2
NM_001292063.2:c.6287_6288insCCTGTGAGTCATGGGATCG MANE Select	NP_001278992.1:p.Ala2097LeufsTer2