Canonical Allele Identifier: CA2697547886
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2710085
ClinVar RCV Id: RCV003550263
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26482578_26482582del , CM000664.2:g.26482578_26482582del GRCh38
NC_000002.11:g.26705446_26705450del , CM000664.1:g.26705446_26705450del GRCh37
NC_000002.10:g.26558950_26558954del NCBI36
NG_009937.1:g.81120_81124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.1406_1410del MANE Select ENSP00000272371.2:p.Val469GlufsTer5
ENST00000272371.6:c.1406_1410del ENSP00000272371.2:p.Val469GlufsTer5
ENST00000403946.7:c.1406_1410del ENSP00000385255.3:p.Val469GlufsTer5
NM_001287489.1:c.1406_1410del NP_001274418.1:p.Val469GlufsTer5
NM_194248.2:c.1406_1410del NP_919224.1:p.Val469GlufsTer5
XM_005264644.2:c.1451_1455del XP_005264701.1:p.Val484GlufsTer5
XM_011533185.1:c.1451_1455del XP_011531487.1:p.Val484GlufsTer5
XM_017005338.1:c.1406_1410del XP_016860827.1:p.Val469GlufsTer5
NM_001287489.2:c.1406_1410del NP_001274418.1:p.Val469GlufsTer5
NM_194248.3:c.1406_1410del MANE Select NP_919224.1:p.Val469GlufsTer5
Search 100 bp 5'
Search 100 bp 3'