Canonical Allele Identifier: CA2740092766
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 3003026
ClinVar RCV Id: RCV003860617
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26519093_26519094delinsAA , CM000664.2:g.26519093_26519094delinsAA GRCh38
NC_000002.11:g.26741961_26741962delinsAA , CM000664.1:g.26741961_26741962delinsAA GRCh37
NC_000002.10:g.26595465_26595466delinsAA NCBI36
NG_009937.1:g.44605_44606delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.243_244delinsTT MANE Select ENSP00000272371.2:p.Arg82Cys
ENST00000272371.6:c.243_244delinsTT ENSP00000272371.2:p.Arg82Cys
ENST00000403946.7:c.243_244delinsTT ENSP00000385255.3:p.Arg82Cys
NM_001287489.1:c.243_244delinsTT NP_001274418.1:p.Arg82Cys
NM_194248.2:c.243_244delinsTT NP_919224.1:p.Arg82Cys
XM_005264644.2:c.243_244delinsTT XP_005264701.1:p.Arg82Cys
XM_011533185.1:c.243_244delinsTT XP_011531487.1:p.Arg82Cys
XM_017005338.1:c.243_244delinsTT XP_016860827.1:p.Arg82Cys
NM_001287489.2:c.243_244delinsTT NP_001274418.1:p.Arg82Cys
NM_194248.3:c.243_244delinsTT MANE Select NP_919224.1:p.Arg82Cys
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