Canonical Allele Identifier: CA345141

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460664dup , CM000664.2:g.26460664dup	GRCh38
NC_000002.11:g.26683532dup , CM000664.1:g.26683532dup	GRCh37
NC_000002.10:g.26537036dup	NCBI36
NG_009937.1:g.103039dup

Transcript Alleles

HGVS	Amino-acid Change
NM_194248.3:c.5800dup MANE Select	NP_919224.1:p.Leu1934ProfsTer?
ENST00000272371.7:c.5800dup MANE Select	ENSP00000272371.2:p.Leu1934ProfsTer?
NM_194323.3:c.3499dup MANE Plus Clinical	NP_919304.1:p.Leu1167ProfsTer?
ENST00000339598.8:c.3499dup MANE Plus Clinical	ENSP00000344521.3:p.Leu1167ProfsTer?
NM_001287489.1:c.5800dup	NP_001274418.1:p.Leu1934ProfsTer?
NM_001287489.2:c.5800dup	NP_001274418.1:p.Leu1934ProfsTer?
NM_004802.3:c.3499dup	NP_004793.2:p.Leu1167ProfsTer?
NM_004802.4:c.3499dup	NP_004793.2:p.Leu1167ProfsTer?
NM_194248.2:c.5800dup	NP_919224.1:p.Leu1934ProfsTer?
NM_194322.2:c.3730dup	NP_919303.1:p.Leu1244ProfsTer?
NM_194322.3:c.3730dup	NP_919303.1:p.Leu1244ProfsTer?
NM_194323.2:c.3499dup	NP_919304.1:p.Leu1167ProfsTer?
ENST00000272371.6:c.5800dup	ENSP00000272371.2:p.Leu1934ProfsTer?
ENST00000338581.10:c.3499dup	ENSP00000345137.6:p.Leu1167ProfsTer?
ENST00000339598.7:c.3499dup	ENSP00000344521.3:p.Leu1167ProfsTer?
ENST00000402415.7:c.3730dup	ENSP00000383906.3:p.Leu1244ProfsTer?
ENST00000402415.8:c.3559dup	ENSP00000383906.4:p.Leu1187ProfsTer?
ENST00000403946.7:c.5800dup	ENSP00000385255.3:p.Leu1934ProfsTer?
XM_005264644.2:c.5785dup	XP_005264701.1:p.Leu1929ProfsTer?
XM_011533185.1:c.5845dup	XP_011531487.1:p.Leu1949ProfsTer?
XM_017005338.1:c.5740dup	XP_016860827.1:p.Leu1914ProfsTer?