Canonical Allele Identifier: CA2612690249
Gene: OTOG HGNC NCBI

Linked Data

gnomAD v4: 11-17635155-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17635160dup , CM000673.2:g.17635160dup GRCh38
NC_000011.9:g.17656707dup , CM000673.1:g.17656707dup GRCh37
NC_000011.8:g.17613283dup NCBI36
NG_033191.1:g.92788dup
NG_033191.2:g.92788dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7702dup ENSP00000382323.2:p.Asp2568GlyfsTer13
ENST00000399397.6:c.7666dup MANE Select ENSP00000382329.2:p.Asp2556GlyfsTer13
ENST00000342528.2:c.4322-450dup ENSP00000341666.2:n.4322-450dup
ENST00000399391.6:c.7702dup ENSP00000382323.2:p.Asp2568GlyfsTer13
ENST00000399397.5:c.7666dup ENSP00000382329.2:p.Asp2556GlyfsTer13
NM_001277269.1:c.7702dup NP_001264198.1:p.Asp2568GlyfsTer13
NM_001292063.1:c.7666dup NP_001278992.1:p.Asp2556GlyfsTer13
NM_001277269.2:c.7702dup NP_001264198.1:p.Asp2568GlyfsTer13
NM_001292063.2:c.7666dup MANE Select NP_001278992.1:p.Asp2556GlyfsTer13
Search 100 bp 5'
Search 100 bp 3'