Canonical Allele Identifier: CA2539078414

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2699988
• ClinVar RCV Id: RCV003496084

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584090_44584091del , CM000677.2:g.44584090_44584091del	GRCh38
NC_000015.9:g.44876288_44876289del , CM000677.1:g.44876288_44876289del	GRCh37
NC_000015.8:g.42663580_42663581del	NCBI36
NG_008885.1:g.84591_84592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5592_5593del	ENSP00000453246.2:p.Glu1864AspfsTer5
ENST00000561391.2:n.1820_1821del
ENST00000682065.1:c.5448_5449del	ENSP00000507025.1:p.Glu1816AspfsTer5
ENST00000682460.1:c.*1849_*1850del	ENSP00000508334.1:n.*1849_*1850del
ENST00000682495.1:c.*2084_*2085del	ENSP00000507166.1:n.*2084_*2085del
ENST00000682669.1:c.5391_5392del	ENSP00000507782.1:p.Glu1797AspfsTer5
ENST00000683186.1:c.*2355_*2356del	ENSP00000507268.1:n.*2355_*2356del
ENST00000683496.1:c.5592_5593del	ENSP00000506968.1:p.Glu1864AspfsTer5
ENST00000683734.1:c.5592_5593del	ENSP00000508319.1:p.Glu1864AspfsTer5
ENST00000683753.1:n.4638_4639del
ENST00000684038.1:c.*2012_*2013del	ENSP00000507141.1:n.*2012_*2013del
ENST00000684235.1:c.5592_5593del	ENSP00000508295.1:p.Glu1864AspfsTer5
ENST00000684676.1:c.5515+77_5515+78del	ENSP00000506948.1:n.5515+77_5515+78del
ENST00000261866.12:c.5592_5593del MANE Select	ENSP00000261866.7:p.Glu1864AspfsTer5
ENST00000261866.11:c.5592_5593del	ENSP00000261866.7:p.Glu1864AspfsTer5
ENST00000427534.6:c.5592_5593del	ENSP00000396110.2:p.Glu1864AspfsTer5
ENST00000535302.6:c.5592_5593del	ENSP00000445278.2:p.Glu1864AspfsTer5
ENST00000558319.5:c.5592_5593del	ENSP00000453599.1:p.Glu1864AspfsTer5
ENST00000559511.5:c.440_441del
ENST00000559822.1:c.287+77_287+78del
NM_001160227.1:c.5592_5593del	NP_001153699.1:p.Glu1864AspfsTer5
NM_025137.3:c.5592_5593del	NP_079413.3:p.Glu1864AspfsTer5
XM_005254695.3:c.5334_5335del	XP_005254752.1:p.Glu1778AspfsTer5
XM_006720700.1:c.5448_5449del	XP_006720763.1:p.Glu1816AspfsTer5
XM_017022634.1:c.5592_5593del	XP_016878123.1:p.Glu1864AspfsTer5
XM_017022636.1:c.2469_2470del	XP_016878125.1:p.Glu823AspfsTer5
NM_025137.4:c.5592_5593del MANE Select	NP_079413.3:p.Glu1864AspfsTer5
NM_001160227.2:c.5592_5593del	NP_001153699.1:p.Glu1864AspfsTer5