Canonical Allele Identifier: CA2740257660
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477677del , CM000664.2:g.26477677del GRCh38
NC_000002.11:g.26700545del , CM000664.1:g.26700545del GRCh37
NC_000002.10:g.26554049del NCBI36
NG_009937.1:g.86022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.2287del MANE Select ENSP00000272371.2:p.Val763SerfsTer5
ENST00000339598.8:c.46del MANE Plus Clinical ENSP00000344521.3:p.Val16SerfsTer5
ENST00000402415.8:c.46del ENSP00000383906.4:p.Val16SerfsTer5
ENST00000272371.6:c.2287del ENSP00000272371.2:p.Val763SerfsTer5
ENST00000338581.10:c.46del ENSP00000345137.6:p.Val16SerfsTer5
ENST00000339598.7:c.46del ENSP00000344521.3:p.Val16SerfsTer5
ENST00000402415.7:c.217del ENSP00000383906.3:p.Val73SerfsTer5
ENST00000403946.7:c.2287del ENSP00000385255.3:p.Val763SerfsTer5
NM_001287489.1:c.2287del NP_001274418.1:p.Val763SerfsTer5
NM_004802.3:c.46del NP_004793.2:p.Val16SerfsTer5
NM_194248.2:c.2287del NP_919224.1:p.Val763SerfsTer5
NM_194322.2:c.217del NP_919303.1:p.Val73SerfsTer5
NM_194323.2:c.46del NP_919304.1:p.Val16SerfsTer5
XM_005264644.2:c.2332del XP_005264701.1:p.Val778SerfsTer5
XM_011533185.1:c.2332del XP_011531487.1:p.Val778SerfsTer5
XM_017005338.1:c.2287del XP_016860827.1:p.Val763SerfsTer5
NM_001287489.2:c.2287del NP_001274418.1:p.Val763SerfsTer5
NM_004802.4:c.46del NP_004793.2:p.Val16SerfsTer5
NM_194248.3:c.2287del MANE Select NP_919224.1:p.Val763SerfsTer5
NM_194322.3:c.217del NP_919303.1:p.Val73SerfsTer5
NM_194323.3:c.46del MANE Plus Clinical NP_919304.1:p.Val16SerfsTer5