Canonical Allele Identifier: CA2739274262
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2840350
ClinVar RCV Id: RCV003716305

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26461684_26461688dup , CM000664.2:g.26461684_26461688dup GRCh38
NC_000002.11:g.26684552_26684556dup , CM000664.1:g.26684552_26684556dup GRCh37
NC_000002.10:g.26538056_26538060dup NCBI36
NG_009937.1:g.102017_102021dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.5533+14_5533+18dup MANE Select ENSP00000272371.2:n.5533+14_5533+18dup
ENST00000339598.8:c.3232+14_3232+18dup MANE Plus Clinical ENSP00000344521.3:n.3232+14_3232+18dup
ENST00000402415.8:c.3292+14_3292+18dup ENSP00000383906.4:n.3292+14_3292+18dup
ENST00000272371.6:c.5533+14_5533+18dup ENSP00000272371.2:n.5533+14_5533+18dup
ENST00000338581.10:c.3232+14_3232+18dup ENSP00000345137.6:n.3232+14_3232+18dup
ENST00000339598.7:c.3232+14_3232+18dup ENSP00000344521.3:n.3232+14_3232+18dup
ENST00000402415.7:c.3463+14_3463+18dup ENSP00000383906.3:n.3463+14_3463+18dup
ENST00000403946.7:c.5533+14_5533+18dup ENSP00000385255.3:n.5533+14_5533+18dup
NM_001287489.1:c.5533+14_5533+18dup NP_001274418.1:n.5533+14_5533+18dup
NM_004802.3:c.3232+14_3232+18dup NP_004793.2:n.3232+14_3232+18dup
NM_194248.2:c.5533+14_5533+18dup NP_919224.1:n.5533+14_5533+18dup
NM_194322.2:c.3463+14_3463+18dup NP_919303.1:n.3463+14_3463+18dup
NM_194323.2:c.3232+14_3232+18dup NP_919304.1:n.3232+14_3232+18dup
XM_005264644.2:c.5518+14_5518+18dup XP_005264701.1:n.5518+14_5518+18dup
XM_011533185.1:c.5578+14_5578+18dup XP_011531487.1:n.5578+14_5578+18dup
XM_017005338.1:c.5473+14_5473+18dup XP_016860827.1:n.5473+14_5473+18dup
NM_001287489.2:c.5533+14_5533+18dup NP_001274418.1:n.5533+14_5533+18dup
NM_004802.4:c.3232+14_3232+18dup NP_004793.2:n.3232+14_3232+18dup
NM_194248.3:c.5533+14_5533+18dup MANE Select NP_919224.1:n.5533+14_5533+18dup
NM_194322.3:c.3463+14_3463+18dup NP_919303.1:n.3463+14_3463+18dup
NM_194323.3:c.3232+14_3232+18dup MANE Plus Clinical NP_919304.1:n.3232+14_3232+18dup