Canonical Allele Identifier: CA345092
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 65780
ClinVar RCV Id: RCV000056019
dbSNP Id: rs397515585
MyVariant Identifiers: chr2:g.26703848del (hg19) chr2:g.26480980del (hg38)
PubMed: PMID:19636622 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480982del , CM000664.2:g.26480982del GRCh38
NC_000002.11:g.26703850del , CM000664.1:g.26703850del GRCh37
NC_000002.10:g.26557354del NCBI36
NG_009937.1:g.82719del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1609del MANE Select ENSP00000272371.2:p.Val537Ter
ENST00000272371.6:c.1609del ENSP00000272371.2:p.Val537Ter
ENST00000403946.7:c.1609del ENSP00000385255.3:p.Val537Ter
NM_001287489.1:c.1609del NP_001274418.1:p.Val537Ter
NM_194248.2:c.1609del NP_919224.1:p.Val537Ter
XM_005264644.2:c.1654del XP_005264701.1:p.Val552Ter
XM_011533185.1:c.1654del XP_011531487.1:p.Val552Ter
XM_017005338.1:c.1609del XP_016860827.1:p.Val537Ter
NM_001287489.2:c.1609del NP_001274418.1:p.Val537Ter
NM_194248.3:c.1609del MANE Select NP_919224.1:p.Val537Ter
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