Canonical Allele Identifier: CA1563974

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2772958
• ClinVar RCV Id: RCV003576944
• dbSNP Id: rs750187920
• ExAC: 2:26700530 TCA / T
• MyVariant Identifiers: chr2:g.26700531_26700532del (hg19) ; chr2:g.26477663_26477664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477663_26477664del , CM000664.2:g.26477663_26477664del	GRCh38
NC_000002.11:g.26700531_26700532del , CM000664.1:g.26700531_26700532del	GRCh37
NC_000002.10:g.26554035_26554036del	NCBI36
NG_009937.1:g.86035_86036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2300_2301del MANE Select	ENSP00000272371.2:p.Leu767GlnfsTer12
ENST00000339598.8:c.59_60del MANE Plus Clinical	ENSP00000344521.3:p.Leu20GlnfsTer12
ENST00000402415.8:c.59_60del	ENSP00000383906.4:p.Leu20GlnfsTer12
ENST00000272371.6:c.2300_2301del	ENSP00000272371.2:p.Leu767GlnfsTer12
ENST00000338581.10:c.59_60del	ENSP00000345137.6:p.Leu20GlnfsTer12
ENST00000339598.7:c.59_60del	ENSP00000344521.3:p.Leu20GlnfsTer12
ENST00000402415.7:c.230_231del	ENSP00000383906.3:p.Leu77GlnfsTer12
ENST00000403946.7:c.2300_2301del	ENSP00000385255.3:p.Leu767GlnfsTer12
NM_001287489.1:c.2300_2301del	NP_001274418.1:p.Leu767GlnfsTer12
NM_004802.3:c.59_60del	NP_004793.2:p.Leu20GlnfsTer12
NM_194248.2:c.2300_2301del	NP_919224.1:p.Leu767GlnfsTer12
NM_194322.2:c.230_231del	NP_919303.1:p.Leu77GlnfsTer12
NM_194323.2:c.59_60del	NP_919304.1:p.Leu20GlnfsTer12
XM_005264644.2:c.2345_2346del	XP_005264701.1:p.Leu782GlnfsTer12
XM_011533185.1:c.2345_2346del	XP_011531487.1:p.Leu782GlnfsTer12
XM_017005338.1:c.2300_2301del	XP_016860827.1:p.Leu767GlnfsTer12
NM_001287489.2:c.2300_2301del	NP_001274418.1:p.Leu767GlnfsTer12
NM_004802.4:c.59_60del	NP_004793.2:p.Leu20GlnfsTer12
NM_194248.3:c.2300_2301del MANE Select	NP_919224.1:p.Leu767GlnfsTer12
NM_194322.3:c.230_231del	NP_919303.1:p.Leu77GlnfsTer12
NM_194323.3:c.59_60del MANE Plus Clinical	NP_919304.1:p.Leu20GlnfsTer12