Canonical Allele Identifier: CA262044
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48193
ClinVar RCV Id: RCV000041491
dbSNP Id: rs111033370

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26477451_26477452insT , CM000664.2:g.26477451_26477452insT GRCh38
NC_000002.11:g.26700319_26700320insT , CM000664.1:g.26700319_26700320insT GRCh37
NC_000002.10:g.26553823_26553824insT NCBI36
NG_009937.1:g.86247_86248insA

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.2370_2371insA VV NP_001274418.1:p.Asp791ArgfsTer?
NM_004802.3:c.129_130insA VV NP_004793.2:p.Asp44ArgfsTer?
NM_194248.2:c.2370_2371insA VV NP_919224.1:p.Asp791ArgfsTer?
NM_194322.2:c.300_301insA VV NP_919303.1:p.Asp101ArgfsTer?
NM_194323.2:c.129_130insA VV NP_919304.1:p.Asp44ArgfsTer?
XM_005264644.2:n.2415_2416insA XP_005264701.1:p.Asp806ArgfsTer?
XM_011533185.1:n.2415_2416insA XP_011531487.1:p.Asp806ArgfsTer?
XM_017005338.1:n.2370_2371insA XP_016860827.1:p.Asp791ArgfsTer?
ENST00000272371.6:c.2370_2371insA ENSP00000272371.2:p.Asp791ArgfsTer?
ENST00000338581.10:c.129_130insA ENSP00000345137.6:p.Asp44ArgfsTer?
ENST00000339598.7:c.129_130insA ENSP00000344521.3:p.Asp44ArgfsTer?
ENST00000402415.7:c.300_301insA ENSP00000383906.3:p.Asp101ArgfsTer?
ENST00000403946.7:c.2370_2371insA ENSP00000385255.3:p.Asp791ArgfsTer?