Canonical Allele Identifier: CA425207397

Gene: OTOF

Linked Data

• gnomAD v4: 2-26467397-CG-C
• COSMIC: COSM166140 ; COSM166141
• MyVariant Identifiers: chr2:g.26690266del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467402del , CM000664.2:g.26467402del	GRCh38
NC_000002.11:g.26690270del , CM000664.1:g.26690270del	GRCh37
NC_000002.10:g.26543774del	NCBI36
NG_009937.1:g.96301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4194del MANE Select	ENSP00000272371.2:p.Glu1399ArgfsTer?
ENST00000339598.8:c.1893del MANE Plus Clinical	ENSP00000344521.3:p.Glu632ArgfsTer?
ENST00000402415.8:c.1953del	ENSP00000383906.4:p.Glu652ArgfsTer?
ENST00000272371.6:c.4194del	ENSP00000272371.2:p.Glu1399ArgfsTer?
ENST00000338581.10:c.1893del	ENSP00000345137.6:p.Glu632ArgfsTer?
ENST00000339598.7:c.1893del	ENSP00000344521.3:p.Glu632ArgfsTer?
ENST00000402415.7:c.2124del	ENSP00000383906.3:p.Glu709ArgfsTer?
ENST00000403946.7:c.4194del	ENSP00000385255.3:p.Glu1399ArgfsTer?
NM_001287489.1:c.4194del	NP_001274418.1:p.Glu1399ArgfsTer?
NM_004802.3:c.1893del	NP_004793.2:p.Glu632ArgfsTer?
NM_194248.2:c.4194del	NP_919224.1:p.Glu1399ArgfsTer?
NM_194322.2:c.2124del	NP_919303.1:p.Glu709ArgfsTer?
NM_194323.2:c.1893del	NP_919304.1:p.Glu632ArgfsTer?
XM_005264644.2:c.4179del	XP_005264701.1:p.Glu1394ArgfsTer?
XM_011533185.1:c.4239del	XP_011531487.1:p.Glu1414ArgfsTer?
XM_017005338.1:c.4134del	XP_016860827.1:p.Glu1379ArgfsTer?
NM_001287489.2:c.4194del	NP_001274418.1:p.Glu1399ArgfsTer?
NM_004802.4:c.1893del	NP_004793.2:p.Glu632ArgfsTer?
NM_194248.3:c.4194del MANE Select	NP_919224.1:p.Glu1399ArgfsTer?
NM_194322.3:c.2124del	NP_919303.1:p.Glu709ArgfsTer?
NM_194323.3:c.1893del MANE Plus Clinical	NP_919304.1:p.Glu632ArgfsTer?