Canonical Allele Identifier: CA345108
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 65791
ClinVar RCV Id: RCV000056030
dbSNP Id: rs397515594
MyVariant Identifiers: chr2:g.26699177_26699178del (hg19) chr2:g.26476309_26476310del (hg38)
PubMed: PMID:18381613 PMID:20301429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26476310_26476311del , CM000664.2:g.26476310_26476311del GRCh38
NC_000002.11:g.26699178_26699179del , CM000664.1:g.26699178_26699179del GRCh37
NC_000002.10:g.26552682_26552683del NCBI36
NG_009937.1:g.87389_87390del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2684_2685del MANE Select ENSP00000272371.2:p.Gly895GlufsTer?
ENST00000339598.8:c.443_444del MANE Plus Clinical ENSP00000344521.3:p.Gly148GlufsTer?
ENST00000402415.8:c.443_444del ENSP00000383906.4:p.Gly148GlufsTer?
ENST00000272371.6:c.2684_2685del ENSP00000272371.2:p.Gly895GlufsTer?
ENST00000338581.10:c.443_444del ENSP00000345137.6:p.Gly148GlufsTer?
ENST00000339598.7:c.443_444del ENSP00000344521.3:p.Gly148GlufsTer?
ENST00000402415.7:c.614_615del ENSP00000383906.3:p.Gly205GlufsTer?
ENST00000403946.7:c.2684_2685del ENSP00000385255.3:p.Gly895GlufsTer?
NM_001287489.1:c.2684_2685del NP_001274418.1:p.Gly895GlufsTer?
NM_004802.3:c.443_444del NP_004793.2:p.Gly148GlufsTer?
NM_194248.2:c.2684_2685del NP_919224.1:p.Gly895GlufsTer?
NM_194322.2:c.614_615del NP_919303.1:p.Gly205GlufsTer?
NM_194323.2:c.443_444del NP_919304.1:p.Gly148GlufsTer?
XM_005264644.2:c.2729_2730del XP_005264701.1:p.Gly910GlufsTer?
XM_011533185.1:c.2729_2730del XP_011531487.1:p.Gly910GlufsTer?
XM_017005338.1:c.2684_2685del XP_016860827.1:p.Gly895GlufsTer?
NM_001287489.2:c.2684_2685del NP_001274418.1:p.Gly895GlufsTer?
NM_004802.4:c.443_444del NP_004793.2:p.Gly148GlufsTer?
NM_194248.3:c.2684_2685del MANE Select NP_919224.1:p.Gly895GlufsTer?
NM_194322.3:c.614_615del NP_919303.1:p.Gly205GlufsTer?
NM_194323.3:c.443_444del MANE Plus Clinical NP_919304.1:p.Gly148GlufsTer?
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