Canonical Allele Identifier: CA142800

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48196
• ClinVar RCV Id: RCV000041495 ; RCV000992472
• dbSNP Id: rs111033392
• MyVariant Identifiers: chr2:g.26700288_26700289delinsAA (hg19) ; chr2:g.26477420_26477421delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477420_26477421delinsAA , CM000664.2:g.26477420_26477421delinsAA	GRCh38
NC_000002.11:g.26700288_26700289delinsAA , CM000664.1:g.26700288_26700289delinsAA	GRCh37
NC_000002.10:g.26553792_26553793delinsAA	NCBI36
NG_009937.1:g.86278_86279delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2401_2402delinsTT MANE Select	ENSP00000272371.2:p.Glu801Leu
ENST00000339598.8:c.160_161delinsTT MANE Plus Clinical	ENSP00000344521.3:p.Glu54Leu
ENST00000402415.8:c.160_161delinsTT	ENSP00000383906.4:p.Glu54Leu
ENST00000272371.6:c.2401_2402delinsTT	ENSP00000272371.2:p.Glu801Leu
ENST00000338581.10:c.160_161delinsTT	ENSP00000345137.6:p.Glu54Leu
ENST00000339598.7:c.160_161delinsTT	ENSP00000344521.3:p.Glu54Leu
ENST00000402415.7:c.331_332delinsTT	ENSP00000383906.3:p.Glu111Leu
ENST00000403946.7:c.2401_2402delinsTT	ENSP00000385255.3:p.Glu801Leu
NM_001287489.1:c.2401_2402delinsTT	NP_001274418.1:p.Glu801Leu
NM_004802.3:c.160_161delinsTT	NP_004793.2:p.Glu54Leu
NM_194248.2:c.2401_2402delinsTT	NP_919224.1:p.Glu801Leu
NM_194322.2:c.331_332delinsTT	NP_919303.1:p.Glu111Leu
NM_194323.2:c.160_161delinsTT	NP_919304.1:p.Glu54Leu
XM_005264644.2:c.2446_2447delinsTT	XP_005264701.1:p.Glu816Leu
XM_011533185.1:c.2446_2447delinsTT	XP_011531487.1:p.Glu816Leu
XM_017005338.1:c.2401_2402delinsTT	XP_016860827.1:p.Glu801Leu
NM_001287489.2:c.2401_2402delinsTT	NP_001274418.1:p.Glu801Leu
NM_004802.4:c.160_161delinsTT	NP_004793.2:p.Glu54Leu
NM_194248.3:c.2401_2402delinsTT MANE Select	NP_919224.1:p.Glu801Leu
NM_194322.3:c.331_332delinsTT	NP_919303.1:p.Glu111Leu
NM_194323.3:c.160_161delinsTT MANE Plus Clinical	NP_919304.1:p.Glu54Leu