Canonical Allele Identifier: CA2658238777

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2707044
• ClinVar RCV Id: RCV003552285
• gnomAD v4: 2-26482515-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26482520_26482521del , CM000664.2:g.26482520_26482521del	GRCh38
NC_000002.11:g.26705388_26705389del , CM000664.1:g.26705388_26705389del	GRCh37
NC_000002.10:g.26558892_26558893del	NCBI36
NG_009937.1:g.81182_81183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1468_1469del MANE Select	ENSP00000272371.2:p.Pro490ThrfsTer26
ENST00000272371.6:c.1468_1469del	ENSP00000272371.2:p.Pro490ThrfsTer26
ENST00000403946.7:c.1468_1469del	ENSP00000385255.3:p.Pro490ThrfsTer26
NM_001287489.1:c.1468_1469del	NP_001274418.1:p.Pro490ThrfsTer26
NM_194248.2:c.1468_1469del	NP_919224.1:p.Pro490ThrfsTer26
XM_005264644.2:c.1513_1514del	XP_005264701.1:p.Pro505ThrfsTer26
XM_011533185.1:c.1513_1514del	XP_011531487.1:p.Pro505ThrfsTer26
XM_017005338.1:c.1468_1469del	XP_016860827.1:p.Pro490ThrfsTer26
NM_001287489.2:c.1468_1469del	NP_001274418.1:p.Pro490ThrfsTer26
NM_194248.3:c.1468_1469del MANE Select	NP_919224.1:p.Pro490ThrfsTer26