Canonical Allele Identifier: CA270080561
Gene: SPG11 HGNC NCBI

Linked Data

dbSNP Id: rs779363735

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584530del , CM000677.2:g.44584530del GRCh38
NC_000015.9:g.44876728del , CM000677.1:g.44876728del GRCh37
NC_000015.8:g.42664020del NCBI36
NG_008885.1:g.84149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5150del ENSP00000453246.2:p.His1717ProfsTer7
ENST00000561391.2:n.1378del
ENST00000682065.1:c.5122-116del ENSP00000507025.1:n.5122-116del
ENST00000682460.1:c.*1407del ENSP00000508334.1:n.*1407del
ENST00000682495.1:c.*1642del ENSP00000507166.1:n.*1642del
ENST00000682669.1:c.4949del ENSP00000507782.1:p.His1650ProfsTer7
ENST00000683186.1:c.*1913del ENSP00000507268.1:n.*1913del
ENST00000683496.1:c.5150del ENSP00000506968.1:p.His1717ProfsTer7
ENST00000683734.1:c.5150del ENSP00000508319.1:p.His1717ProfsTer7
ENST00000683753.1:n.4196del
ENST00000684038.1:c.*1570del ENSP00000507141.1:n.*1570del
ENST00000684235.1:c.5150del ENSP00000508295.1:p.His1717ProfsTer7
ENST00000684676.1:c.5150del ENSP00000506948.1:p.His1717ProfsTer7
ENST00000261866.12:c.5150del MANE Select ENSP00000261866.7:p.His1717ProfsTer7
ENST00000261866.11:c.5150del ENSP00000261866.7:p.His1717ProfsTer7
ENST00000427534.6:c.5150del ENSP00000396110.2:p.His1717ProfsTer7
ENST00000535302.6:c.5150del ENSP00000445278.2:p.His1717ProfsTer7
ENST00000558319.5:c.5150del ENSP00000453599.1:p.His1717ProfsTer7
ENST00000558790.5:n.587del
NM_001160227.1:c.5150del NP_001153699.1:p.His1717ProfsTer7
NM_025137.3:c.5150del NP_079413.3:p.His1717ProfsTer7
XM_005254695.3:c.4892del XP_005254752.1:p.His1631ProfsTer7
XM_006720700.1:c.5122-116del XP_006720763.1:n.5122-116del
XM_017022634.1:c.5150del XP_016878123.1:p.His1717ProfsTer7
XM_017022636.1:c.2027del XP_016878125.1:p.His676ProfsTer7
XR_931917.2:n.5204del
NM_025137.4:c.5150del MANE Select NP_079413.3:p.His1717ProfsTer7
NM_001160227.2:c.5150del NP_001153699.1:p.His1717ProfsTer7