Canonical Allele Identifier: CA2573146181
Gene: OTOG HGNC NCBI

Linked Data

ClinVar Variation Id: 1672684
ClinVar RCV Id: RCV002210650
dbSNP Id: rs2133722381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17642118_17642119delinsTT , CM000673.2:g.17642118_17642119delinsTT GRCh38
NC_000011.9:g.17663665_17663666delinsTT , CM000673.1:g.17663665_17663666delinsTT GRCh37
NC_000011.8:g.17620241_17620242delinsTT NCBI36
NG_033191.1:g.99746_99747delinsTT
NG_033191.2:g.99746_99747delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000399391.7:c.8332-9_8332-8delinsTT ENSP00000382323.2:n.8332-9_8332-8delinsTT
ENST00000399397.6:c.8296-9_8296-8delinsTT MANE Select ENSP00000382329.2:n.8296-9_8296-8delinsTT
ENST00000399391.6:c.8332-9_8332-8delinsTT ENSP00000382323.2:n.8332-9_8332-8delinsTT
ENST00000399397.5:c.8296-9_8296-8delinsTT ENSP00000382329.2:n.8296-9_8296-8delinsTT
NM_001277269.1:c.8332-9_8332-8delinsTT NP_001264198.1:n.8332-9_8332-8delinsTT
NM_001292063.1:c.8296-9_8296-8delinsTT NP_001278992.1:n.8296-9_8296-8delinsTT
NM_001277269.2:c.8332-9_8332-8delinsTT NP_001264198.1:n.8332-9_8332-8delinsTT
NM_001292063.2:c.8296-9_8296-8delinsTT MANE Select NP_001278992.1:n.8296-9_8296-8delinsTT
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