Canonical Allele Identifier: CA597904980

Gene: OTOG

Linked Data

• dbSNP Id: rs1199650767
• gnomAD v2: 11-17633867-G-GGA
• gnomAD v4: 11-17612320-G-GGA
• MyVariant Identifiers: chr11:g.17633867_17633868insGA (hg19) ; chr11:g.17612320_17612321insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612322_17612323dup , CM000673.2:g.17612322_17612323dup	GRCh38
NC_000011.9:g.17633869_17633870dup , CM000673.1:g.17633869_17633870dup	GRCh37
NC_000011.8:g.17590445_17590446dup	NCBI36
NG_033191.1:g.69950_69951dup
NG_033191.2:g.69950_69951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6320_6321dup	ENSP00000382323.2:p.Cys2108SerfsTer12
ENST00000399397.6:c.6284_6285dup MANE Select	ENSP00000382329.2:p.Cys2096SerfsTer12
ENST00000342528.2:c.3338_3339dup	ENSP00000341666.2:p.Cys1114SerfsTer12
ENST00000399391.6:c.6320_6321dup	ENSP00000382323.2:p.Cys2108SerfsTer12
ENST00000399397.5:c.6284_6285dup	ENSP00000382329.2:p.Cys2096SerfsTer12
NM_001277269.1:c.6320_6321dup	NP_001264198.1:p.Cys2108SerfsTer12
NM_001292063.1:c.6284_6285dup	NP_001278992.1:p.Cys2096SerfsTer12
NM_001277269.2:c.6320_6321dup	NP_001264198.1:p.Cys2108SerfsTer12
NM_001292063.2:c.6284_6285dup MANE Select	NP_001278992.1:p.Cys2096SerfsTer12