Canonical Allele Identifier: CA2695197278
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2633773
ClinVar RCV Id: RCV003400244

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573664del , CM000677.2:g.44573664del GRCh38
NC_000015.9:g.44865862del , CM000677.1:g.44865862del GRCh37
NC_000015.8:g.42653154del NCBI36
NG_008885.1:g.95015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5867-3006del ENSP00000453246.2:n.5867-3006del
ENST00000561391.2:n.2316del
ENST00000682065.1:c.5944del ENSP00000507025.1:p.Asp1982ThrfsTer28
ENST00000682460.1:c.*2345del ENSP00000508334.1:n.*2345del
ENST00000682495.1:c.*2580del ENSP00000507166.1:n.*2580del
ENST00000682669.1:c.5887del ENSP00000507782.1:p.Asp1963ThrfsTer28
ENST00000683186.1:c.*2851del ENSP00000507268.1:n.*2851del
ENST00000683496.1:c.6006+1238del ENSP00000506968.1:n.6006+1238del
ENST00000683734.1:c.*38del ENSP00000508319.1:n.*38del
ENST00000683753.1:n.5134del
ENST00000684038.1:c.*2508del ENSP00000507141.1:n.*2508del
ENST00000684235.1:c.6088del ENSP00000508295.1:p.Asp2030ThrfsTer28
ENST00000684676.1:c.*237del ENSP00000506948.1:n.*237del
ENST00000261866.12:c.6088del MANE Select ENSP00000261866.7:p.Asp2030ThrfsTer28
ENST00000261866.11:c.6088del ENSP00000261866.7:p.Asp2030ThrfsTer28
ENST00000427534.6:c.6088del ENSP00000396110.2:p.Asp2030ThrfsTer28
ENST00000535302.6:c.5867-844del ENSP00000445278.2:n.5867-844del
ENST00000558080.1:n.453del
ENST00000558319.5:c.6088del ENSP00000453599.1:p.Asp2030ThrfsTer28
ENST00000559511.5:c.715-3006del
ENST00000559933.1:n.157del
ENST00000561268.5:n.20del
NM_001160227.1:c.5867-844del NP_001153699.1:n.5867-844del
NM_025137.3:c.6088del NP_079413.3:p.Asp2030ThrfsTer28
XM_005254695.3:c.5830del XP_005254752.1:p.Asp1944ThrfsTer28
XM_006720700.1:c.5944del XP_006720763.1:p.Asp1982ThrfsTer28
XM_017022634.1:c.6088del XP_016878123.1:p.Asp2030ThrfsTer28
XM_017022636.1:c.2965del XP_016878125.1:p.Asp989ThrfsTer28
NM_025137.4:c.6088del MANE Select NP_079413.3:p.Asp2030ThrfsTer28
NM_001160227.2:c.5867-844del NP_001153699.1:n.5867-844del