Canonical Allele Identifier: CA597675862

Gene: OTOG

Linked Data

• dbSNP Id: rs1236010035
• gnomAD v2: 11-17656855-GAGA-G
• gnomAD v3: 11-17635308-GAGA-G
• gnomAD v4: 11-17635308-GAGA-G
• MyVariant Identifiers: chr11:g.17656856_17656858del (hg19) ; chr11:g.17635309_17635311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17635311_17635313del , CM000673.2:g.17635311_17635313del	GRCh38
NC_000011.9:g.17656858_17656860del , CM000673.1:g.17656858_17656860del	GRCh37
NC_000011.8:g.17613434_17613436del	NCBI36
NG_033191.1:g.92939_92941del
NG_033191.2:g.92939_92941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.7729+124_7729+126del	ENSP00000382323.2:n.7729+124_7729+126del
ENST00000399397.6:c.7693+124_7693+126del MANE Select	ENSP00000382329.2:n.7693+124_7693+126del
ENST00000342528.2:c.4322-299_4322-297del	ENSP00000341666.2:n.4322-299_4322-297del
ENST00000399391.6:c.7729+124_7729+126del	ENSP00000382323.2:n.7729+124_7729+126del
ENST00000399397.5:c.7693+124_7693+126del	ENSP00000382329.2:n.7693+124_7693+126del
NM_001277269.1:c.7729+124_7729+126del	NP_001264198.1:n.7729+124_7729+126del
NM_001292063.1:c.7693+124_7693+126del	NP_001278992.1:n.7693+124_7693+126del
NM_001277269.2:c.7729+124_7729+126del	NP_001264198.1:n.7729+124_7729+126del
NM_001292063.2:c.7693+124_7693+126del MANE Select	NP_001278992.1:n.7693+124_7693+126del