Canonical Allele Identifier: CA2790598557
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17638507del , CM000673.2:g.17638507del GRCh38
NC_000011.9:g.17660054del , CM000673.1:g.17660054del GRCh37
NC_000011.8:g.17616630del NCBI36
NG_033191.1:g.96135del
NG_033191.2:g.96135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.7888del ENSP00000382323.2:p.Glu2630ArgfsTer?
ENST00000399397.6:c.7852del MANE Select ENSP00000382329.2:p.Glu2618ArgfsTer?
ENST00000342528.2:c.4480del ENSP00000341666.2:p.Glu1494ArgfsTer?
ENST00000399391.6:c.7888del ENSP00000382323.2:p.Glu2630ArgfsTer?
ENST00000399397.5:c.7852del ENSP00000382329.2:p.Glu2618ArgfsTer?
NM_001277269.1:c.7888del NP_001264198.1:p.Glu2630ArgfsTer?
NM_001292063.1:c.7852del NP_001278992.1:p.Glu2618ArgfsTer?
NM_001277269.2:c.7888del NP_001264198.1:p.Glu2630ArgfsTer?
NM_001292063.2:c.7852del MANE Select NP_001278992.1:p.Glu2618ArgfsTer?