Canonical Allele Identifier: CA2658238778
Gene: OTOF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482549_26482555del , CM000664.2:g.26482549_26482555del GRCh38
NC_000002.11:g.26705417_26705423del , CM000664.1:g.26705417_26705423del GRCh37
NC_000002.10:g.26558921_26558927del NCBI36
NG_009937.1:g.81146_81152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1432_1438del MANE Select ENSP00000272371.2:p.Trp478SerfsTer16
ENST00000272371.6:c.1432_1438del ENSP00000272371.2:p.Trp478SerfsTer16
ENST00000403946.7:c.1432_1438del ENSP00000385255.3:p.Trp478SerfsTer16
NM_001287489.1:c.1432_1438del NP_001274418.1:p.Trp478SerfsTer16
NM_194248.2:c.1432_1438del NP_919224.1:p.Trp478SerfsTer16
XM_005264644.2:c.1477_1483del XP_005264701.1:p.Trp493SerfsTer16
XM_011533185.1:c.1477_1483del XP_011531487.1:p.Trp493SerfsTer16
XM_017005338.1:c.1432_1438del XP_016860827.1:p.Trp478SerfsTer16
NM_001287489.2:c.1432_1438del NP_001274418.1:p.Trp478SerfsTer16
NM_194248.3:c.1432_1438del MANE Select NP_919224.1:p.Trp478SerfsTer16