Canonical Allele Identifier: CA531395944

Gene: OTOF

Linked Data

• dbSNP Id: rs779119416
• gnomAD v2: 2-26705383-T-TG
• gnomAD v4: 2-26482515-T-TG
• MyVariant Identifiers: chr2:g.26705384_26705385insG (hg19) ; chr2:g.26705383_26705384insG (hg19) ; chr2:g.26482516_26482517insG (hg38) ; chr2:g.26482515_26482516insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482521dup , CM000664.2:g.26482521dup	GRCh38
NC_000002.11:g.26705389dup , CM000664.1:g.26705389dup	GRCh37
NC_000002.10:g.26558893dup	NCBI36
NG_009937.1:g.81183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1469dup MANE Select	ENSP00000272371.2:p.Leu491ThrfsTer26
ENST00000272371.6:c.1469dup	ENSP00000272371.2:p.Leu491ThrfsTer26
ENST00000403946.7:c.1469dup	ENSP00000385255.3:p.Leu491ThrfsTer26
NM_001287489.1:c.1469dup	NP_001274418.1:p.Leu491ThrfsTer26
NM_194248.2:c.1469dup	NP_919224.1:p.Leu491ThrfsTer26
XM_005264644.2:c.1514dup	XP_005264701.1:p.Leu506ThrfsTer26
XM_011533185.1:c.1514dup	XP_011531487.1:p.Leu506ThrfsTer26
XM_017005338.1:c.1469dup	XP_016860827.1:p.Leu491ThrfsTer26
NM_001287489.2:c.1469dup	NP_001274418.1:p.Leu491ThrfsTer26
NM_194248.3:c.1469dup MANE Select	NP_919224.1:p.Leu491ThrfsTer26