Canonical Allele Identifier: CA2573150859

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1404395
• ClinVar RCV Id: RCV001899004
• dbSNP Id: rs2140931516

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44575008_44575009dup , CM000677.2:g.44575008_44575009dup	GRCh38
NC_000015.9:g.44867206_44867207dup , CM000677.1:g.44867206_44867207dup	GRCh37
NC_000015.8:g.42654498_42654499dup	NCBI36
NG_008885.1:g.93671_93672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5867-4350_5867-4349dup	ENSP00000453246.2:n.5867-4350_5867-4349dup
ENST00000561391.2:n.2128_2129dup
ENST00000682065.1:c.5756_5757dup	ENSP00000507025.1:p.Pro1920CysfsTer8
ENST00000682460.1:c.*2157_*2158dup	ENSP00000508334.1:n.*2157_*2158dup
ENST00000682495.1:c.*2392_*2393dup	ENSP00000507166.1:n.*2392_*2393dup
ENST00000682669.1:c.5699_5700dup	ENSP00000507782.1:p.Pro1901CysfsTer8
ENST00000683186.1:c.*2663_*2664dup	ENSP00000507268.1:n.*2663_*2664dup
ENST00000683496.1:c.5900_5901dup	ENSP00000506968.1:p.Pro1968CysfsTer8
ENST00000683734.1:c.5867-1263_5867-1262dup	ENSP00000508319.1:n.5867-1263_5867-1262dup
ENST00000683753.1:n.4946_4947dup
ENST00000684038.1:c.*2320_*2321dup	ENSP00000507141.1:n.*2320_*2321dup
ENST00000684235.1:c.5900_5901dup	ENSP00000508295.1:p.Pro1968CysfsTer8
ENST00000684676.1:c.*49_*50dup	ENSP00000506948.1:n.*49_*50dup
ENST00000261866.12:c.5900_5901dup MANE Select	ENSP00000261866.7:p.Pro1968CysfsTer8
ENST00000261866.11:c.5900_5901dup	ENSP00000261866.7:p.Pro1968CysfsTer8
ENST00000427534.6:c.5900_5901dup	ENSP00000396110.2:p.Pro1968CysfsTer8
ENST00000535302.6:c.5867-2188_5867-2187dup	ENSP00000445278.2:n.5867-2188_5867-2187dup
ENST00000558080.1:n.265_266dup
ENST00000558319.5:c.5900_5901dup	ENSP00000453599.1:p.Pro1968CysfsTer8
ENST00000559511.5:c.715-4350_715-4349dup
ENST00000559822.1:c.443_444dup
NM_001160227.1:c.5867-2188_5867-2187dup	NP_001153699.1:n.5867-2188_5867-2187dup
NM_025137.3:c.5900_5901dup	NP_079413.3:p.Pro1968CysfsTer8
XM_005254695.3:c.5642_5643dup	XP_005254752.1:p.Pro1882CysfsTer8
XM_006720700.1:c.5756_5757dup	XP_006720763.1:p.Pro1920CysfsTer8
XM_017022634.1:c.5900_5901dup	XP_016878123.1:p.Pro1968CysfsTer8
XM_017022636.1:c.2777_2778dup	XP_016878125.1:p.Pro927CysfsTer8
NM_025137.4:c.5900_5901dup MANE Select	NP_079413.3:p.Pro1968CysfsTer8
NM_001160227.2:c.5867-2188_5867-2187dup	NP_001153699.1:n.5867-2188_5867-2187dup