Canonical Allele Identifier: CA2586968846
Gene: OTOF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482504_26482506del , CM000664.2:g.26482504_26482506del GRCh38
NC_000002.11:g.26705372_26705374del , CM000664.1:g.26705372_26705374del GRCh37
NC_000002.10:g.26558876_26558878del NCBI36
NG_009937.1:g.81193_81195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1479_1481del MANE Select ENSP00000272371.2:p.Lys493_Arg494delinsAsn
ENST00000272371.6:c.1479_1481del ENSP00000272371.2:p.Lys493_Arg494delinsAsn
ENST00000403946.7:c.1479_1481del ENSP00000385255.3:p.Lys493_Arg494delinsAsn
NM_001287489.1:c.1479_1481del NP_001274418.1:p.Lys493_Arg494delinsAsn
NM_194248.2:c.1479_1481del NP_919224.1:p.Lys493_Arg494delinsAsn
XM_005264644.2:c.1524_1526del XP_005264701.1:p.Lys508_Arg509delinsAsn
XM_011533185.1:c.1524_1526del XP_011531487.1:p.Lys508_Arg509delinsAsn
XM_017005338.1:c.1479_1481del XP_016860827.1:p.Lys493_Arg494delinsAsn
NM_001287489.2:c.1479_1481del NP_001274418.1:p.Lys493_Arg494delinsAsn
NM_194248.3:c.1479_1481del MANE Select NP_919224.1:p.Lys493_Arg494delinsAsn