Canonical Allele Identifier: CA273475
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 177793
ClinVar RCV Id: RCV000154421
dbSNP Id: rs111033384
MyVariant Identifiers: chr2:g.26682962del (hg19) chr2:g.26460094del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460094del , CM000664.2:g.26460094del GRCh38
NC_000002.11:g.26682962del , CM000664.1:g.26682962del GRCh37
NC_000002.10:g.26536466del NCBI36
NG_009937.1:g.103605del

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5925del MANE Select ENSP00000272371.2:p.Leu1976SerfsTer?
ENST00000339598.8:c.3512+553del MANE Plus Clinical ENSP00000344521.3:n.3512+553del
ENST00000402415.8:c.3684del ENSP00000383906.4:p.Leu1229SerfsTer?
ENST00000272371.6:c.5925del ENSP00000272371.2:p.Leu1976SerfsTer?
ENST00000338581.10:c.3624del ENSP00000345137.6:p.Leu1209SerfsTer?
ENST00000339598.7:c.3512+553del ENSP00000344521.3:n.3512+553del
ENST00000402415.7:c.3855del ENSP00000383906.3:p.Leu1286SerfsTer?
ENST00000403946.7:c.5813+553del ENSP00000385255.3:n.5813+553del
NM_001287489.1:c.5813+553del NP_001274418.1:n.5813+553del
NM_004802.3:c.3624del NP_004793.2:p.Leu1209SerfsTer?
NM_194248.2:c.5925del NP_919224.1:p.Leu1976SerfsTer?
NM_194322.2:c.3855del NP_919303.1:p.Leu1286SerfsTer?
NM_194323.2:c.3512+553del NP_919304.1:n.3512+553del
XM_005264644.2:c.5798+553del XP_005264701.1:n.5798+553del
XM_011533185.1:c.5858+553del XP_011531487.1:n.5858+553del
XM_017005338.1:c.5865del XP_016860827.1:p.Leu1956SerfsTer?
NM_001287489.2:c.5813+553del NP_001274418.1:n.5813+553del
NM_004802.4:c.3624del NP_004793.2:p.Leu1209SerfsTer?
NM_194248.3:c.5925del MANE Select NP_919224.1:p.Leu1976SerfsTer?
NM_194322.3:c.3855del NP_919303.1:p.Leu1286SerfsTer?
NM_194323.3:c.3512+553del MANE Plus Clinical NP_919304.1:n.3512+553del
Search 100 bp 5'
Search 100 bp 3'