Canonical Allele Identifier: CA2658234816

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2816862
• ClinVar RCV Id: RCV003710989
• gnomAD v4: 2-26467159-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467163dup , CM000664.2:g.26467163dup	GRCh38
NC_000002.11:g.26690031dup , CM000664.1:g.26690031dup	GRCh37
NC_000002.10:g.26543535dup	NCBI36
NG_009937.1:g.96539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4301dup MANE Select	ENSP00000272371.2:p.Lys1435GlnfsTer5
ENST00000339598.8:c.2000dup MANE Plus Clinical	ENSP00000344521.3:p.Lys668GlnfsTer5
ENST00000402415.8:c.2060dup	ENSP00000383906.4:p.Lys688GlnfsTer5
ENST00000272371.6:c.4301dup	ENSP00000272371.2:p.Lys1435GlnfsTer5
ENST00000338581.10:c.2000dup	ENSP00000345137.6:p.Lys668GlnfsTer5
ENST00000339598.7:c.2000dup	ENSP00000344521.3:p.Lys668GlnfsTer5
ENST00000402415.7:c.2231dup	ENSP00000383906.3:p.Lys745GlnfsTer5
ENST00000403946.7:c.4301dup	ENSP00000385255.3:p.Lys1435GlnfsTer5
NM_001287489.1:c.4301dup	NP_001274418.1:p.Lys1435GlnfsTer5
NM_004802.3:c.2000dup	NP_004793.2:p.Lys668GlnfsTer5
NM_194248.2:c.4301dup	NP_919224.1:p.Lys1435GlnfsTer5
NM_194322.2:c.2231dup	NP_919303.1:p.Lys745GlnfsTer5
NM_194323.2:c.2000dup	NP_919304.1:p.Lys668GlnfsTer5
XM_005264644.2:c.4286dup	XP_005264701.1:p.Lys1430GlnfsTer5
XM_011533185.1:c.4346dup	XP_011531487.1:p.Lys1450GlnfsTer5
XM_017005338.1:c.4241dup	XP_016860827.1:p.Lys1415GlnfsTer5
NM_001287489.2:c.4301dup	NP_001274418.1:p.Lys1435GlnfsTer5
NM_004802.4:c.2000dup	NP_004793.2:p.Lys668GlnfsTer5
NM_194248.3:c.4301dup MANE Select	NP_919224.1:p.Lys1435GlnfsTer5
NM_194322.3:c.2231dup	NP_919303.1:p.Lys745GlnfsTer5
NM_194323.3:c.2000dup MANE Plus Clinical	NP_919304.1:p.Lys668GlnfsTer5