Canonical Allele Identifier: CA2567807523
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17632216_17632223del , CM000673.2:g.17632216_17632223del GRCh38
NC_000011.9:g.17653763_17653770del , CM000673.1:g.17653763_17653770del GRCh37
NC_000011.8:g.17610339_17610346del NCBI36
NG_033191.1:g.89844_89851del
NG_033191.2:g.89844_89851del

Transcript Alleles

HGVS Amino-acid change
ENST00000399391.7:c.7098_7105del ENSP00000382323.2:p.Asp2367ProfsTer18
ENST00000399397.6:c.7062_7069del MANE Select ENSP00000382329.2:p.Asp2355ProfsTer18
ENST00000342528.2:c.4116_4123del ENSP00000341666.2:p.Asp1373ProfsTer18
ENST00000399391.6:c.7098_7105del ENSP00000382323.2:p.Asp2367ProfsTer18
ENST00000399397.5:c.7062_7069del ENSP00000382329.2:p.Asp2355ProfsTer18
NM_001277269.1:c.7098_7105del NP_001264198.1:p.Asp2367ProfsTer18
NM_001292063.1:c.7062_7069del NP_001278992.1:p.Asp2355ProfsTer18
NM_001277269.2:c.7098_7105del NP_001264198.1:p.Asp2367ProfsTer18
NM_001292063.2:c.7062_7069del MANE Select NP_001278992.1:p.Asp2355ProfsTer18