Canonical Allele Identifier: CA2830555106
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553648_17553650del , CM000673.2:g.17553648_17553650del GRCh38
NC_000011.9:g.17575195_17575197del , CM000673.1:g.17575195_17575197del GRCh37
NC_000011.8:g.17531771_17531773del NCBI36
NG_033191.1:g.11276_11278del
NG_033191.2:g.11276_11278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+129_576+131del ENSP00000382323.2:n.576+129_576+131del
ENST00000399397.6:c.540+129_540+131del MANE Select ENSP00000382329.2:n.540+129_540+131del
ENST00000399391.6:c.576+129_576+131del ENSP00000382323.2:n.576+129_576+131del
ENST00000399397.5:c.540+129_540+131del ENSP00000382329.2:n.540+129_540+131del
ENST00000498332.5:n.446+129_446+131del
NM_001277269.1:c.576+129_576+131del NP_001264198.1:n.576+129_576+131del
NM_001292063.1:c.540+129_540+131del NP_001278992.1:n.540+129_540+131del
NM_001277269.2:c.576+129_576+131del NP_001264198.1:n.576+129_576+131del
NM_001292063.2:c.540+129_540+131del MANE Select NP_001278992.1:n.540+129_540+131del