Canonical Allele Identifier: CA2576699412
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475984del , CM000664.2:g.26475984del GRCh38
NC_000002.11:g.26698852del , CM000664.1:g.26698852del GRCh37
NC_000002.10:g.26552356del NCBI36
NG_009937.1:g.87716del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2922del MANE Select ENSP00000272371.2:p.Ala975ProfsTer25
ENST00000339598.8:c.681del MANE Plus Clinical ENSP00000344521.3:p.Ala228ProfsTer25
ENST00000402415.8:c.681del ENSP00000383906.4:p.Ala228ProfsTer25
ENST00000272371.6:c.2922del ENSP00000272371.2:p.Ala975ProfsTer25
ENST00000338581.10:c.681del ENSP00000345137.6:p.Ala228ProfsTer25
ENST00000339598.7:c.681del ENSP00000344521.3:p.Ala228ProfsTer25
ENST00000402415.7:c.852del ENSP00000383906.3:p.Ala285ProfsTer25
ENST00000403946.7:c.2922del ENSP00000385255.3:p.Ala975ProfsTer25
NM_001287489.1:c.2922del NP_001274418.1:p.Ala975ProfsTer25
NM_004802.3:c.681del NP_004793.2:p.Ala228ProfsTer25
NM_194248.2:c.2922del NP_919224.1:p.Ala975ProfsTer25
NM_194322.2:c.852del NP_919303.1:p.Ala285ProfsTer25
NM_194323.2:c.681del NP_919304.1:p.Ala228ProfsTer25
XM_005264644.2:c.2967del XP_005264701.1:p.Ala990ProfsTer25
XM_011533185.1:c.2967del XP_011531487.1:p.Ala990ProfsTer25
XM_017005338.1:c.2922del XP_016860827.1:p.Ala975ProfsTer25
NM_001287489.2:c.2922del NP_001274418.1:p.Ala975ProfsTer25
NM_004802.4:c.681del NP_004793.2:p.Ala228ProfsTer25
NM_194248.3:c.2922del MANE Select NP_919224.1:p.Ala975ProfsTer25
NM_194322.3:c.852del NP_919303.1:p.Ala285ProfsTer25
NM_194323.3:c.681del MANE Plus Clinical NP_919304.1:p.Ala228ProfsTer25