Canonical Allele Identifier: CA674240943

Gene: OTOG

Linked Data

• dbSNP Id: rs1554975313
• gnomAD v3: 11-17612320-G-GGAGT
• gnomAD v4: 11-17612320-G-GGAGT
• MyVariant Identifiers: chr11:g.17633867_17633868insGAGT (hg19) ; chr11:g.17612320_17612321insGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612322_17612325dup , CM000673.2:g.17612322_17612325dup	GRCh38
NC_000011.9:g.17633869_17633872dup , CM000673.1:g.17633869_17633872dup	GRCh37
NC_000011.8:g.17590445_17590448dup	NCBI36
NG_033191.1:g.69950_69953dup
NG_033191.2:g.69950_69953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6320_6323dup	ENSP00000382323.2:p.Cys2108Ter
ENST00000399397.6:c.6284_6287dup MANE Select	ENSP00000382329.2:p.Cys2096Ter
ENST00000342528.2:c.3338_3341dup	ENSP00000341666.2:p.Cys1114Ter
ENST00000399391.6:c.6320_6323dup	ENSP00000382323.2:p.Cys2108Ter
ENST00000399397.5:c.6284_6287dup	ENSP00000382329.2:p.Cys2096Ter
NM_001277269.1:c.6320_6323dup	NP_001264198.1:p.Cys2108Ter
NM_001292063.1:c.6284_6287dup	NP_001278992.1:p.Cys2096Ter
NM_001277269.2:c.6320_6323dup	NP_001264198.1:p.Cys2108Ter
NM_001292063.2:c.6284_6287dup MANE Select	NP_001278992.1:p.Cys2096Ter