Canonical Allele Identifier: CA273582
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 179115
ClinVar RCV Id: RCV000155900
dbSNP Id: rs727504639
gnomAD v4: 2-26474622-GC-G
MyVariant Identifiers: chr2:g.26697491del (hg19) chr2:g.26474623del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26474624del , CM000664.2:g.26474624del GRCh38
NC_000002.11:g.26697492del , CM000664.1:g.26697492del GRCh37
NC_000002.10:g.26550996del NCBI36
NG_009937.1:g.89076del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.3178del MANE Select ENSP00000272371.2:p.Ala1060GlnfsTer?
ENST00000339598.8:c.937del MANE Plus Clinical ENSP00000344521.3:p.Ala313GlnfsTer?
ENST00000402415.8:c.937del ENSP00000383906.4:p.Ala313GlnfsTer?
ENST00000272371.6:c.3178del ENSP00000272371.2:p.Ala1060GlnfsTer?
ENST00000338581.10:c.937del ENSP00000345137.6:p.Ala313GlnfsTer?
ENST00000339598.7:c.937del ENSP00000344521.3:p.Ala313GlnfsTer?
ENST00000402415.7:c.1108del ENSP00000383906.3:p.Ala370GlnfsTer?
ENST00000403946.7:c.3178del ENSP00000385255.3:p.Ala1060GlnfsTer?
NM_001287489.1:c.3178del NP_001274418.1:p.Ala1060GlnfsTer?
NM_004802.3:c.937del NP_004793.2:p.Ala313GlnfsTer?
NM_194248.2:c.3178del NP_919224.1:p.Ala1060GlnfsTer?
NM_194322.2:c.1108del NP_919303.1:p.Ala370GlnfsTer?
NM_194323.2:c.937del NP_919304.1:p.Ala313GlnfsTer?
XM_005264644.2:c.3223del XP_005264701.1:p.Ala1075GlnfsTer?
XM_011533185.1:c.3223del XP_011531487.1:p.Ala1075GlnfsTer?
XM_017005338.1:c.3178del XP_016860827.1:p.Ala1060GlnfsTer?
NM_001287489.2:c.3178del NP_001274418.1:p.Ala1060GlnfsTer?
NM_004802.4:c.937del NP_004793.2:p.Ala313GlnfsTer?
NM_194248.3:c.3178del MANE Select NP_919224.1:p.Ala1060GlnfsTer?
NM_194322.3:c.1108del NP_919303.1:p.Ala370GlnfsTer?
NM_194323.3:c.937del MANE Plus Clinical NP_919304.1:p.Ala313GlnfsTer?
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