Canonical Allele Identifier: CA273658
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 179828

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475929_26475930del , CM000664.2:g.26475929_26475930del GRCh38
NC_000002.11:g.26698797_26698798del , CM000664.1:g.26698797_26698798del GRCh37
NC_000002.10:g.26552301_26552302del NCBI36
NG_009937.1:g.87771_87772del

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.2977_2978del VV NP_001274418.1:p.Gln994ValfsTer7
NM_004802.3:c.736_737del VV NP_004793.2:p.Gln247ValfsTer7
NM_194248.2:c.2977_2978del VV NP_919224.1:p.Gln994ValfsTer7
NM_194322.2:c.907_908del VV NP_919303.1:p.Gln304ValfsTer7
NM_194323.2:c.736_737del VV NP_919304.1:p.Gln247ValfsTer7
XM_005264644.2:n.3022_3023del XP_005264701.1:p.Gln1009ValfsTer7
XM_011533185.1:n.3022_3023del XP_011531487.1:p.Gln1009ValfsTer7
XM_017005338.1:n.2977_2978del XP_016860827.1:p.Gln994ValfsTer7
ENST00000272371.6:c.2977_2978del ENSP00000272371.2:p.Gln994ValfsTer7
ENST00000338581.10:c.736_737del ENSP00000345137.6:p.Gln247ValfsTer7
ENST00000339598.7:c.736_737del ENSP00000344521.3:p.Gln247ValfsTer7
ENST00000402415.7:c.907_908del ENSP00000383906.3:p.Gln304ValfsTer7
ENST00000403946.7:c.2977_2978del ENSP00000385255.3:p.Gln994ValfsTer7