Canonical Allele Identifier: CA2580066197

Gene: OTOF

Linked Data

• ClinVar Variation Id: 1703050
• ClinVar RCV Id: RCV003128452

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467473_26467483dup , CM000664.2:g.26467473_26467483dup	GRCh38
NC_000002.11:g.26690341_26690351dup , CM000664.1:g.26690341_26690351dup	GRCh37
NC_000002.10:g.26543845_26543855dup	NCBI36
NG_009937.1:g.96217_96227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4110_4120dup MANE Select	ENSP00000272371.2:p.Lys1374ArgfsTer?
ENST00000339598.8:c.1809_1819dup MANE Plus Clinical	ENSP00000344521.3:p.Lys607ArgfsTer?
ENST00000402415.8:c.1869_1879dup	ENSP00000383906.4:p.Lys627ArgfsTer?
ENST00000272371.6:c.4110_4120dup	ENSP00000272371.2:p.Lys1374ArgfsTer?
ENST00000338581.10:c.1809_1819dup	ENSP00000345137.6:p.Lys607ArgfsTer?
ENST00000339598.7:c.1809_1819dup	ENSP00000344521.3:p.Lys607ArgfsTer?
ENST00000402415.7:c.2040_2050dup	ENSP00000383906.3:p.Lys684ArgfsTer?
ENST00000403946.7:c.4110_4120dup	ENSP00000385255.3:p.Lys1374ArgfsTer?
NM_001287489.1:c.4110_4120dup	NP_001274418.1:p.Lys1374ArgfsTer?
NM_004802.3:c.1809_1819dup	NP_004793.2:p.Lys607ArgfsTer?
NM_194248.2:c.4110_4120dup	NP_919224.1:p.Lys1374ArgfsTer?
NM_194322.2:c.2040_2050dup	NP_919303.1:p.Lys684ArgfsTer?
NM_194323.2:c.1809_1819dup	NP_919304.1:p.Lys607ArgfsTer?
XM_005264644.2:c.4095_4105dup	XP_005264701.1:p.Lys1369ArgfsTer?
XM_011533185.1:c.4155_4165dup	XP_011531487.1:p.Lys1389ArgfsTer?
XM_017005338.1:c.4050_4060dup	XP_016860827.1:p.Lys1354ArgfsTer?
NM_001287489.2:c.4110_4120dup	NP_001274418.1:p.Lys1374ArgfsTer?
NM_004802.4:c.1809_1819dup	NP_004793.2:p.Lys607ArgfsTer?
NM_194248.3:c.4110_4120dup MANE Select	NP_919224.1:p.Lys1374ArgfsTer?
NM_194322.3:c.2040_2050dup	NP_919303.1:p.Lys684ArgfsTer?
NM_194323.3:c.1809_1819dup MANE Plus Clinical	NP_919304.1:p.Lys607ArgfsTer?