Canonical Allele Identifier: CA2586968837

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477440del , CM000664.2:g.26477440del	GRCh38
NC_000002.11:g.26700308del , CM000664.1:g.26700308del	GRCh37
NC_000002.10:g.26553812del	NCBI36
NG_009937.1:g.86260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2383del MANE Select	ENSP00000272371.2:p.Leu795SerfsTer5
ENST00000339598.8:c.142del MANE Plus Clinical	ENSP00000344521.3:p.Leu48SerfsTer5
ENST00000402415.8:c.142del	ENSP00000383906.4:p.Leu48SerfsTer5
ENST00000272371.6:c.2383del	ENSP00000272371.2:p.Leu795SerfsTer5
ENST00000338581.10:c.142del	ENSP00000345137.6:p.Leu48SerfsTer5
ENST00000339598.7:c.142del	ENSP00000344521.3:p.Leu48SerfsTer5
ENST00000402415.7:c.313del	ENSP00000383906.3:p.Leu105SerfsTer5
ENST00000403946.7:c.2383del	ENSP00000385255.3:p.Leu795SerfsTer5
NM_001287489.1:c.2383del	NP_001274418.1:p.Leu795SerfsTer5
NM_004802.3:c.142del	NP_004793.2:p.Leu48SerfsTer5
NM_194248.2:c.2383del	NP_919224.1:p.Leu795SerfsTer5
NM_194322.2:c.313del	NP_919303.1:p.Leu105SerfsTer5
NM_194323.2:c.142del	NP_919304.1:p.Leu48SerfsTer5
XM_005264644.2:c.2428del	XP_005264701.1:p.Leu810SerfsTer5
XM_011533185.1:c.2428del	XP_011531487.1:p.Leu810SerfsTer5
XM_017005338.1:c.2383del	XP_016860827.1:p.Leu795SerfsTer5
NM_001287489.2:c.2383del	NP_001274418.1:p.Leu795SerfsTer5
NM_004802.4:c.142del	NP_004793.2:p.Leu48SerfsTer5
NM_194248.3:c.2383del MANE Select	NP_919224.1:p.Leu795SerfsTer5
NM_194322.3:c.313del	NP_919303.1:p.Leu105SerfsTer5
NM_194323.3:c.142del MANE Plus Clinical	NP_919304.1:p.Leu48SerfsTer5