Canonical Allele Identifier: CA1955233072
Gene: OTOG HGNC NCBI

Linked Data

dbSNP Id: rs1853591262

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17612670del , CM000673.2:g.17612670del GRCh38
NC_000011.9:g.17634217del , CM000673.1:g.17634217del GRCh37
NC_000011.8:g.17590793del NCBI36
NG_033191.1:g.70298del
NG_033191.2:g.70298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.6379del ENSP00000382323.2:p.His2127ThrfsTer2
ENST00000399397.6:c.6343del MANE Select ENSP00000382329.2:p.His2115ThrfsTer2
ENST00000342528.2:c.3397del ENSP00000341666.2:p.His1133ThrfsTer2
ENST00000399391.6:c.6379del ENSP00000382323.2:p.His2127ThrfsTer2
ENST00000399397.5:c.6343del ENSP00000382329.2:p.His2115ThrfsTer2
NM_001277269.1:c.6379del NP_001264198.1:p.His2127ThrfsTer2
NM_001292063.1:c.6343del NP_001278992.1:p.His2115ThrfsTer2
NM_001277269.2:c.6379del NP_001264198.1:p.His2127ThrfsTer2
NM_001292063.2:c.6343del MANE Select NP_001278992.1:p.His2115ThrfsTer2