Canonical Allele Identifier: CA345109
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 65792
ClinVar RCV Id: RCV000056031
dbSNP Id: rs397515595

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26476259_26476262dup , CM000664.2:g.26476259_26476262dup GRCh38
NC_000002.11:g.26699127_26699130dup , CM000664.1:g.26699127_26699130dup GRCh37
NC_000002.10:g.26552631_26552634dup NCBI36
NG_009937.1:g.87437_87440dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.2732_2735dup MANE Select ENSP00000272371.2:p.Tyr913AlafsTer?
ENST00000339598.8:c.491_494dup MANE Plus Clinical ENSP00000344521.3:p.Tyr166AlafsTer?
ENST00000402415.8:c.491_494dup ENSP00000383906.4:p.Tyr166AlafsTer?
ENST00000272371.6:c.2732_2735dup ENSP00000272371.2:p.Tyr913AlafsTer?
ENST00000338581.10:c.491_494dup ENSP00000345137.6:p.Tyr166AlafsTer?
ENST00000339598.7:c.491_494dup ENSP00000344521.3:p.Tyr166AlafsTer?
ENST00000402415.7:c.662_665dup ENSP00000383906.3:p.Tyr223AlafsTer?
ENST00000403946.7:c.2732_2735dup ENSP00000385255.3:p.Tyr913AlafsTer?
NM_001287489.1:c.2732_2735dup NP_001274418.1:p.Tyr913AlafsTer?
NM_004802.3:c.491_494dup NP_004793.2:p.Tyr166AlafsTer?
NM_194248.2:c.2732_2735dup NP_919224.1:p.Tyr913AlafsTer?
NM_194322.2:c.662_665dup NP_919303.1:p.Tyr223AlafsTer?
NM_194323.2:c.491_494dup NP_919304.1:p.Tyr166AlafsTer?
XM_005264644.2:c.2777_2780dup XP_005264701.1:p.Tyr928AlafsTer?
XM_011533185.1:c.2777_2780dup XP_011531487.1:p.Tyr928AlafsTer?
XM_017005338.1:c.2732_2735dup XP_016860827.1:p.Tyr913AlafsTer?
NM_001287489.2:c.2732_2735dup NP_001274418.1:p.Tyr913AlafsTer?
NM_004802.4:c.491_494dup NP_004793.2:p.Tyr166AlafsTer?
NM_194248.3:c.2732_2735dup MANE Select NP_919224.1:p.Tyr913AlafsTer?
NM_194322.3:c.662_665dup NP_919303.1:p.Tyr223AlafsTer?
NM_194323.3:c.491_494dup MANE Plus Clinical NP_919304.1:p.Tyr166AlafsTer?