Canonical Allele Identifier: CA645529723
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482504del , CM000664.2:g.26482504del GRCh38
NC_000002.11:g.26705372del , CM000664.1:g.26705372del GRCh37
NC_000002.10:g.26558876del NCBI36
NG_009937.1:g.81195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1481del MANE Select ENSP00000272371.2:p.Arg494ProfsTer2
ENST00000272371.6:c.1481del ENSP00000272371.2:p.Arg494ProfsTer2
ENST00000403946.7:c.1481del ENSP00000385255.3:p.Arg494ProfsTer2
NM_001287489.1:c.1481del NP_001274418.1:p.Arg494ProfsTer2
NM_194248.2:c.1481del NP_919224.1:p.Arg494ProfsTer2
XM_005264644.2:c.1526del XP_005264701.1:p.Arg509ProfsTer2
XM_011533185.1:c.1526del XP_011531487.1:p.Arg509ProfsTer2
XM_017005338.1:c.1481del XP_016860827.1:p.Arg494ProfsTer2
NM_001287489.2:c.1481del NP_001274418.1:p.Arg494ProfsTer2
NM_194248.3:c.1481del MANE Select NP_919224.1:p.Arg494ProfsTer2