Canonical Allele Identifier: CA2841250665
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553388dup , CM000673.2:g.17553388dup GRCh38
NC_000011.9:g.17574935dup , CM000673.1:g.17574935dup GRCh37
NC_000011.8:g.17531511dup NCBI36
NG_033191.1:g.11016dup
NG_033191.2:g.11016dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.445dup ENSP00000382323.2:p.Asp149GlyfsTer16
ENST00000399397.6:c.409dup MANE Select ENSP00000382329.2:p.Asp137GlyfsTer16
ENST00000399391.6:c.445dup ENSP00000382323.2:p.Asp149GlyfsTer16
ENST00000399397.5:c.409dup ENSP00000382329.2:p.Asp137GlyfsTer16
ENST00000428619.1:c.226dup ENSP00000399057.2:p.Asp76GlyfsTer16
ENST00000498332.5:n.315dup
NM_001277269.1:c.445dup NP_001264198.1:p.Asp149GlyfsTer16
NM_001292063.1:c.409dup NP_001278992.1:p.Asp137GlyfsTer16
NM_001277269.2:c.445dup NP_001264198.1:p.Asp149GlyfsTer16
NM_001292063.2:c.409dup MANE Select NP_001278992.1:p.Asp137GlyfsTer16