Canonical Allele Identifier: CA262049
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 48264
ClinVar RCV Id: RCV000041577
dbSNP Id: rs111033446
MyVariant Identifiers: chr2:g.26683856_26683857del (hg19) chr2:g.26460989_26460990del (hg38) chr2:g.26460988_26460989del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460989_26460990del , CM000664.2:g.26460989_26460990del GRCh38
NC_000002.11:g.26683857_26683858del , CM000664.1:g.26683857_26683858del GRCh37
NC_000002.10:g.26537361_26537362del NCBI36
NG_009937.1:g.102710_102711del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5575_5576del MANE Select ENSP00000272371.2:p.Lys1859AspfsTer?
ENST00000339598.8:c.3274_3275del MANE Plus Clinical ENSP00000344521.3:p.Lys1092AspfsTer?
ENST00000402415.8:c.3334_3335del ENSP00000383906.4:p.Lys1112AspfsTer?
ENST00000272371.6:c.5575_5576del ENSP00000272371.2:p.Lys1859AspfsTer?
ENST00000338581.10:c.3274_3275del ENSP00000345137.6:p.Lys1092AspfsTer?
ENST00000339598.7:c.3274_3275del ENSP00000344521.3:p.Lys1092AspfsTer?
ENST00000402415.7:c.3505_3506del ENSP00000383906.3:p.Lys1169AspfsTer?
ENST00000403946.7:c.5575_5576del ENSP00000385255.3:p.Lys1859AspfsTer?
NM_001287489.1:c.5575_5576del NP_001274418.1:p.Lys1859AspfsTer?
NM_004802.3:c.3274_3275del NP_004793.2:p.Lys1092AspfsTer?
NM_194248.2:c.5575_5576del NP_919224.1:p.Lys1859AspfsTer?
NM_194322.2:c.3505_3506del NP_919303.1:p.Lys1169AspfsTer?
NM_194323.2:c.3274_3275del NP_919304.1:p.Lys1092AspfsTer?
XM_005264644.2:c.5560_5561del XP_005264701.1:p.Lys1854AspfsTer?
XM_011533185.1:c.5620_5621del XP_011531487.1:p.Lys1874AspfsTer?
XM_017005338.1:c.5515_5516del XP_016860827.1:p.Lys1839AspfsTer?
NM_001287489.2:c.5575_5576del NP_001274418.1:p.Lys1859AspfsTer?
NM_004802.4:c.3274_3275del NP_004793.2:p.Lys1092AspfsTer?
NM_194248.3:c.5575_5576del MANE Select NP_919224.1:p.Lys1859AspfsTer?
NM_194322.3:c.3505_3506del NP_919303.1:p.Lys1169AspfsTer?
NM_194323.3:c.3274_3275del MANE Plus Clinical NP_919304.1:p.Lys1092AspfsTer?
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