Canonical Allele Identifier: CA674247128
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1206494524
gnomAD v3: 11-17553634-G-GC
gnomAD v4: 11-17553634-G-GC
MyVariant Identifiers: chr11:g.17575181_17575182insC (hg19) chr11:g.17553634_17553635insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553640dup , CM000673.2:g.17553640dup GRCh38
NC_000011.9:g.17575187dup , CM000673.1:g.17575187dup GRCh37
NC_000011.8:g.17531763dup NCBI36
NG_033191.1:g.11268dup
NG_033191.2:g.11268dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+121dup ENSP00000382323.2:n.576+121dup
ENST00000399397.6:c.540+121dup MANE Select ENSP00000382329.2:n.540+121dup
ENST00000399391.6:c.576+121dup ENSP00000382323.2:n.576+121dup
ENST00000399397.5:c.540+121dup ENSP00000382329.2:n.540+121dup
ENST00000498332.5:n.446+121dup
NM_001277269.1:c.576+121dup NP_001264198.1:n.576+121dup
NM_001292063.1:c.540+121dup NP_001278992.1:n.540+121dup
NM_001277269.2:c.576+121dup NP_001264198.1:n.576+121dup
NM_001292063.2:c.540+121dup MANE Select NP_001278992.1:n.540+121dup
Search 100 bp 5'
Search 100 bp 3'