Canonical Allele Identifier: CA5905365
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 228284
dbSNP Id: rs876657657

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553478del , CM000673.2:g.17553478del GRCh38
NC_000011.9:g.17575025del , CM000673.1:g.17575025del GRCh37
NC_000011.8:g.17531601del NCBI36
NG_033191.1:g.11106del
NG_033191.2:g.11106del

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.535del ENSP00000382323.2:p.Val179TrpfsTer?
ENST00000399397.6:c.499del MANE Select ENSP00000382329.2:p.Val167TrpfsTer?
ENST00000399391.6:c.535del ENSP00000382323.2:p.Val179TrpfsTer?
ENST00000399397.5:c.499del ENSP00000382329.2:p.Val167TrpfsTer?
ENST00000498332.5:n.405del
NM_001277269.1:c.535del NP_001264198.1:p.Val179TrpfsTer?
NM_001292063.1:c.499del NP_001278992.1:p.Val167TrpfsTer?
NM_001277269.2:c.535del NP_001264198.1:p.Val179TrpfsTer?
NM_001292063.2:c.499del MANE Select NP_001278992.1:p.Val167TrpfsTer?