Canonical Allele Identifier: CA2586968812

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475988dup , CM000664.2:g.26475988dup	GRCh38
NC_000002.11:g.26698856dup , CM000664.1:g.26698856dup	GRCh37
NC_000002.10:g.26552360dup	NCBI36
NG_009937.1:g.87713dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2919dup MANE Select	ENSP00000272371.2:p.Ala974CysfsTer28
ENST00000339598.8:c.678dup MANE Plus Clinical	ENSP00000344521.3:p.Ala227CysfsTer28
ENST00000402415.8:c.678dup	ENSP00000383906.4:p.Ala227CysfsTer28
ENST00000272371.6:c.2919dup	ENSP00000272371.2:p.Ala974CysfsTer28
ENST00000338581.10:c.678dup	ENSP00000345137.6:p.Ala227CysfsTer28
ENST00000339598.7:c.678dup	ENSP00000344521.3:p.Ala227CysfsTer28
ENST00000402415.7:c.849dup	ENSP00000383906.3:p.Ala284CysfsTer28
ENST00000403946.7:c.2919dup	ENSP00000385255.3:p.Ala974CysfsTer28
NM_001287489.1:c.2919dup	NP_001274418.1:p.Ala974CysfsTer28
NM_004802.3:c.678dup	NP_004793.2:p.Ala227CysfsTer28
NM_194248.2:c.2919dup	NP_919224.1:p.Ala974CysfsTer28
NM_194322.2:c.849dup	NP_919303.1:p.Ala284CysfsTer28
NM_194323.2:c.678dup	NP_919304.1:p.Ala227CysfsTer28
XM_005264644.2:c.2964dup	XP_005264701.1:p.Ala989CysfsTer28
XM_011533185.1:c.2964dup	XP_011531487.1:p.Ala989CysfsTer28
XM_017005338.1:c.2919dup	XP_016860827.1:p.Ala974CysfsTer28
NM_001287489.2:c.2919dup	NP_001274418.1:p.Ala974CysfsTer28
NM_004802.4:c.678dup	NP_004793.2:p.Ala227CysfsTer28
NM_194248.3:c.2919dup MANE Select	NP_919224.1:p.Ala974CysfsTer28
NM_194322.3:c.849dup	NP_919303.1:p.Ala284CysfsTer28
NM_194323.3:c.678dup MANE Plus Clinical	NP_919304.1:p.Ala227CysfsTer28