Canonical Allele Identifier: CA767277286

Gene: OTOF

Linked Data

• dbSNP Id: rs1224651177
• gnomAD v3: 2-26475831-GCCCCACAGGCTCCAGT-G
• gnomAD v4: 2-26475831-GCCCCACAGGCTCCAGT-G
• MyVariant Identifiers: chr2:g.26698700_26698715del (hg19) ; chr2:g.26475832_26475847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475844_26475859del , CM000664.2:g.26475844_26475859del	GRCh38
NC_000002.11:g.26698712_26698727del , CM000664.1:g.26698712_26698727del	GRCh37
NC_000002.10:g.26552216_26552231del	NCBI36
NG_009937.1:g.87852_87867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2991+67_2991+82del MANE Select	ENSP00000272371.2:n.2991+67_2991+82del
ENST00000339598.8:c.750+67_750+82del MANE Plus Clinical	ENSP00000344521.3:n.750+67_750+82del
ENST00000402415.8:c.750+67_750+82del	ENSP00000383906.4:n.750+67_750+82del
ENST00000272371.6:c.2991+67_2991+82del	ENSP00000272371.2:n.2991+67_2991+82del
ENST00000338581.10:c.750+67_750+82del	ENSP00000345137.6:n.750+67_750+82del
ENST00000339598.7:c.750+67_750+82del	ENSP00000344521.3:n.750+67_750+82del
ENST00000402415.7:c.921+67_921+82del	ENSP00000383906.3:n.921+67_921+82del
ENST00000403946.7:c.2991+67_2991+82del	ENSP00000385255.3:n.2991+67_2991+82del
NM_001287489.1:c.2991+67_2991+82del	NP_001274418.1:n.2991+67_2991+82del
NM_004802.3:c.750+67_750+82del	NP_004793.2:n.750+67_750+82del
NM_194248.2:c.2991+67_2991+82del	NP_919224.1:n.2991+67_2991+82del
NM_194322.2:c.921+67_921+82del	NP_919303.1:n.921+67_921+82del
NM_194323.2:c.750+67_750+82del	NP_919304.1:n.750+67_750+82del
XM_005264644.2:c.3036+67_3036+82del	XP_005264701.1:n.3036+67_3036+82del
XM_011533185.1:c.3036+67_3036+82del	XP_011531487.1:n.3036+67_3036+82del
XM_017005338.1:c.2991+67_2991+82del	XP_016860827.1:n.2991+67_2991+82del
NM_001287489.2:c.2991+67_2991+82del	NP_001274418.1:n.2991+67_2991+82del
NM_004802.4:c.750+67_750+82del	NP_004793.2:n.750+67_750+82del
NM_194248.3:c.2991+67_2991+82del MANE Select	NP_919224.1:n.2991+67_2991+82del
NM_194322.3:c.921+67_921+82del	NP_919303.1:n.921+67_921+82del
NM_194323.3:c.750+67_750+82del MANE Plus Clinical	NP_919304.1:n.750+67_750+82del