Canonical Allele Identifier: CA2586968840

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477690_26477695delinsT , CM000664.2:g.26477690_26477695delinsT	GRCh38
NC_000002.11:g.26700558_26700563delinsT , CM000664.1:g.26700558_26700563delinsT	GRCh37
NC_000002.10:g.26554062_26554067delinsT	NCBI36
NG_009937.1:g.86004_86009delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2269_2274delinsA MANE Select	ENSP00000272371.2:p.Glu757ThrfsTer21
ENST00000339598.8:c.28_33delinsA MANE Plus Clinical	ENSP00000344521.3:p.Glu10ThrfsTer21
ENST00000402415.8:c.28_33delinsA	ENSP00000383906.4:p.Glu10ThrfsTer21
ENST00000272371.6:c.2269_2274delinsA	ENSP00000272371.2:p.Glu757ThrfsTer21
ENST00000338581.10:c.28_33delinsA	ENSP00000345137.6:p.Glu10ThrfsTer21
ENST00000339598.7:c.28_33delinsA	ENSP00000344521.3:p.Glu10ThrfsTer21
ENST00000402415.7:c.199_204delinsA	ENSP00000383906.3:p.Glu67ThrfsTer21
ENST00000403946.7:c.2269_2274delinsA	ENSP00000385255.3:p.Glu757ThrfsTer21
NM_001287489.1:c.2269_2274delinsA	NP_001274418.1:p.Glu757ThrfsTer21
NM_004802.3:c.28_33delinsA	NP_004793.2:p.Glu10ThrfsTer21
NM_194248.2:c.2269_2274delinsA	NP_919224.1:p.Glu757ThrfsTer21
NM_194322.2:c.199_204delinsA	NP_919303.1:p.Glu67ThrfsTer21
NM_194323.2:c.28_33delinsA	NP_919304.1:p.Glu10ThrfsTer21
XM_005264644.2:c.2314_2319delinsA	XP_005264701.1:p.Glu772ThrfsTer21
XM_011533185.1:c.2314_2319delinsA	XP_011531487.1:p.Glu772ThrfsTer21
XM_017005338.1:c.2269_2274delinsA	XP_016860827.1:p.Glu757ThrfsTer21
NM_001287489.2:c.2269_2274delinsA	NP_001274418.1:p.Glu757ThrfsTer21
NM_004802.4:c.28_33delinsA	NP_004793.2:p.Glu10ThrfsTer21
NM_194248.3:c.2269_2274delinsA MANE Select	NP_919224.1:p.Glu757ThrfsTer21
NM_194322.3:c.199_204delinsA	NP_919303.1:p.Glu67ThrfsTer21
NM_194323.3:c.28_33delinsA MANE Plus Clinical	NP_919304.1:p.Glu10ThrfsTer21