Canonical Allele Identifier: CA346113188

Gene: OTOF

Linked Data

• dbSNP Id: rs1457913218
• MyVariant Identifiers: chr2:g.26698854_26698855del (hg19) ; chr2:g.26475987_26475988del (hg38) ; chr2:g.26475986_26475987del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475987_26475988del , CM000664.2:g.26475987_26475988del	GRCh38
NC_000002.11:g.26698855_26698856del , CM000664.1:g.26698855_26698856del	GRCh37
NC_000002.10:g.26552359_26552360del	NCBI36
NG_009937.1:g.87712_87713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2918_2919del MANE Select	ENSP00000272371.2:p.Phe973CysfsTer28
ENST00000339598.8:c.677_678del MANE Plus Clinical	ENSP00000344521.3:p.Phe226CysfsTer28
ENST00000402415.8:c.677_678del	ENSP00000383906.4:p.Phe226CysfsTer28
ENST00000272371.6:c.2918_2919del	ENSP00000272371.2:p.Phe973CysfsTer28
ENST00000338581.10:c.677_678del	ENSP00000345137.6:p.Phe226CysfsTer28
ENST00000339598.7:c.677_678del	ENSP00000344521.3:p.Phe226CysfsTer28
ENST00000402415.7:c.848_849del	ENSP00000383906.3:p.Phe283CysfsTer28
ENST00000403946.7:c.2918_2919del	ENSP00000385255.3:p.Phe973CysfsTer28
NM_001287489.1:c.2918_2919del	NP_001274418.1:p.Phe973CysfsTer28
NM_004802.3:c.677_678del	NP_004793.2:p.Phe226CysfsTer28
NM_194248.2:c.2918_2919del	NP_919224.1:p.Phe973CysfsTer28
NM_194322.2:c.848_849del	NP_919303.1:p.Phe283CysfsTer28
NM_194323.2:c.677_678del	NP_919304.1:p.Phe226CysfsTer28
XM_005264644.2:c.2963_2964del	XP_005264701.1:p.Phe988CysfsTer28
XM_011533185.1:c.2963_2964del	XP_011531487.1:p.Phe988CysfsTer28
XM_017005338.1:c.2918_2919del	XP_016860827.1:p.Phe973CysfsTer28
NM_001287489.2:c.2918_2919del	NP_001274418.1:p.Phe973CysfsTer28
NM_004802.4:c.677_678del	NP_004793.2:p.Phe226CysfsTer28
NM_194248.3:c.2918_2919del MANE Select	NP_919224.1:p.Phe973CysfsTer28
NM_194322.3:c.848_849del	NP_919303.1:p.Phe283CysfsTer28
NM_194323.3:c.677_678del MANE Plus Clinical	NP_919304.1:p.Phe226CysfsTer28