Canonical Allele Identifier: CA2576699133

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467424_26467427dup , CM000664.2:g.26467424_26467427dup	GRCh38
NC_000002.11:g.26690292_26690295dup , CM000664.1:g.26690292_26690295dup	GRCh37
NC_000002.10:g.26543796_26543799dup	NCBI36
NG_009937.1:g.96272_96275dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4165_4168dup MANE Select	ENSP00000272371.2:p.Gly1390ValfsTer18
ENST00000339598.8:c.1864_1867dup MANE Plus Clinical	ENSP00000344521.3:p.Gly623ValfsTer18
ENST00000402415.8:c.1924_1927dup	ENSP00000383906.4:p.Gly643ValfsTer18
ENST00000272371.6:c.4165_4168dup	ENSP00000272371.2:p.Gly1390ValfsTer18
ENST00000338581.10:c.1864_1867dup	ENSP00000345137.6:p.Gly623ValfsTer18
ENST00000339598.7:c.1864_1867dup	ENSP00000344521.3:p.Gly623ValfsTer18
ENST00000402415.7:c.2095_2098dup	ENSP00000383906.3:p.Gly700ValfsTer18
ENST00000403946.7:c.4165_4168dup	ENSP00000385255.3:p.Gly1390ValfsTer18
NM_001287489.1:c.4165_4168dup	NP_001274418.1:p.Gly1390ValfsTer18
NM_004802.3:c.1864_1867dup	NP_004793.2:p.Gly623ValfsTer18
NM_194248.2:c.4165_4168dup	NP_919224.1:p.Gly1390ValfsTer18
NM_194322.2:c.2095_2098dup	NP_919303.1:p.Gly700ValfsTer18
NM_194323.2:c.1864_1867dup	NP_919304.1:p.Gly623ValfsTer18
XM_005264644.2:c.4150_4153dup	XP_005264701.1:p.Gly1385ValfsTer18
XM_011533185.1:c.4210_4213dup	XP_011531487.1:p.Gly1405ValfsTer18
XM_017005338.1:c.4105_4108dup	XP_016860827.1:p.Gly1370ValfsTer18
NM_001287489.2:c.4165_4168dup	NP_001274418.1:p.Gly1390ValfsTer18
NM_004802.4:c.1864_1867dup	NP_004793.2:p.Gly623ValfsTer18
NM_194248.3:c.4165_4168dup MANE Select	NP_919224.1:p.Gly1390ValfsTer18
NM_194322.3:c.2095_2098dup	NP_919303.1:p.Gly700ValfsTer18
NM_194323.3:c.1864_1867dup MANE Plus Clinical	NP_919304.1:p.Gly623ValfsTer18