Canonical Allele Identifier: CA1239817857

Gene: OTOF

Linked Data

• dbSNP Id: rs1664767782

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467115_26467118dup , CM000664.2:g.26467115_26467118dup	GRCh38
NC_000002.11:g.26689983_26689986dup , CM000664.1:g.26689983_26689986dup	GRCh37
NC_000002.10:g.26543487_26543490dup	NCBI36
NG_009937.1:g.96581_96584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4343_4346dup MANE Select	ENSP00000272371.2:p.Ile1449MetfsTer?
ENST00000339598.8:c.2042_2045dup MANE Plus Clinical	ENSP00000344521.3:p.Ile682MetfsTer?
ENST00000402415.8:c.2102_2105dup	ENSP00000383906.4:p.Ile702MetfsTer?
ENST00000272371.6:c.4343_4346dup	ENSP00000272371.2:p.Ile1449MetfsTer?
ENST00000338581.10:c.2042_2045dup	ENSP00000345137.6:p.Ile682MetfsTer?
ENST00000339598.7:c.2042_2045dup	ENSP00000344521.3:p.Ile682MetfsTer?
ENST00000402415.7:c.2273_2276dup	ENSP00000383906.3:p.Ile759MetfsTer?
ENST00000403946.7:c.4343_4346dup	ENSP00000385255.3:p.Ile1449MetfsTer?
NM_001287489.1:c.4343_4346dup	NP_001274418.1:p.Ile1449MetfsTer?
NM_004802.3:c.2042_2045dup	NP_004793.2:p.Ile682MetfsTer?
NM_194248.2:c.4343_4346dup	NP_919224.1:p.Ile1449MetfsTer?
NM_194322.2:c.2273_2276dup	NP_919303.1:p.Ile759MetfsTer?
NM_194323.2:c.2042_2045dup	NP_919304.1:p.Ile682MetfsTer?
XM_005264644.2:c.4328_4331dup	XP_005264701.1:p.Ile1444MetfsTer?
XM_011533185.1:c.4388_4391dup	XP_011531487.1:p.Ile1464MetfsTer?
XM_017005338.1:c.4283_4286dup	XP_016860827.1:p.Ile1429MetfsTer?
NM_001287489.2:c.4343_4346dup	NP_001274418.1:p.Ile1449MetfsTer?
NM_004802.4:c.2042_2045dup	NP_004793.2:p.Ile682MetfsTer?
NM_194248.3:c.4343_4346dup MANE Select	NP_919224.1:p.Ile1449MetfsTer?
NM_194322.3:c.2273_2276dup	NP_919303.1:p.Ile759MetfsTer?
NM_194323.3:c.2042_2045dup MANE Plus Clinical	NP_919304.1:p.Ile682MetfsTer?