Canonical Allele Identifier: CA2830555107
Gene: OTOG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17553649_17553650insTT , CM000673.2:g.17553649_17553650insTT GRCh38
NC_000011.9:g.17575196_17575197insTT , CM000673.1:g.17575196_17575197insTT GRCh37
NC_000011.8:g.17531772_17531773insTT NCBI36
NG_033191.1:g.11277_11278insTT
NG_033191.2:g.11277_11278insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.576+130_576+131insTT ENSP00000382323.2:n.576+130_576+131insTT
ENST00000399397.6:c.540+130_540+131insTT MANE Select ENSP00000382329.2:n.540+130_540+131insTT
ENST00000399391.6:c.576+130_576+131insTT ENSP00000382323.2:n.576+130_576+131insTT
ENST00000399397.5:c.540+130_540+131insTT ENSP00000382329.2:n.540+130_540+131insTT
ENST00000498332.5:n.446+130_446+131insTT
NM_001277269.1:c.576+130_576+131insTT NP_001264198.1:n.576+130_576+131insTT
NM_001292063.1:c.540+130_540+131insTT NP_001278992.1:n.540+130_540+131insTT
NM_001277269.2:c.576+130_576+131insTT NP_001264198.1:n.576+130_576+131insTT
NM_001292063.2:c.540+130_540+131insTT MANE Select NP_001278992.1:n.540+130_540+131insTT