Canonical Allele Identifier: CA618005999
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683723
dbSNP Id: rs1379359957

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584566del , CM000677.2:g.44584566del GRCh38
NC_000015.9:g.44876764del , CM000677.1:g.44876764del GRCh37
NC_000015.8:g.42664056del NCBI36
NG_008885.1:g.84115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122-6del ENSP00000453246.2:n.5122-6del
ENST00000561391.2:n.1350-6del
ENST00000682065.1:c.5122-150del ENSP00000507025.1:n.5122-150del
ENST00000682460.1:c.*1379-6del ENSP00000508334.1:n.*1379-6del
ENST00000682495.1:c.*1614-6del ENSP00000507166.1:n.*1614-6del
ENST00000682669.1:c.4921-6del ENSP00000507782.1:n.4921-6del
ENST00000683186.1:c.*1885-6del ENSP00000507268.1:n.*1885-6del
ENST00000683496.1:c.5122-6del ENSP00000506968.1:n.5122-6del
ENST00000683734.1:c.5122-6del ENSP00000508319.1:n.5122-6del
ENST00000683753.1:n.4168-6del
ENST00000684038.1:c.*1542-6del ENSP00000507141.1:n.*1542-6del
ENST00000684235.1:c.5122-6del ENSP00000508295.1:n.5122-6del
ENST00000684676.1:c.5122-6del ENSP00000506948.1:n.5122-6del
ENST00000261866.12:c.5122-6del MANE Select ENSP00000261866.7:n.5122-6del
ENST00000261866.11:c.5122-6del ENSP00000261866.7:n.5122-6del
ENST00000427534.6:c.5122-6del ENSP00000396110.2:n.5122-6del
ENST00000535302.6:c.5122-6del ENSP00000445278.2:n.5122-6del
ENST00000558319.5:c.5122-6del ENSP00000453599.1:n.5122-6del
ENST00000558790.5:n.559-6del
NM_001160227.1:c.5122-6del NP_001153699.1:n.5122-6del
NM_025137.3:c.5122-6del NP_079413.3:n.5122-6del
XM_005254695.3:c.4864-6del XP_005254752.1:n.4864-6del
XM_006720700.1:c.5122-150del XP_006720763.1:n.5122-150del
XM_017022634.1:c.5122-6del XP_016878123.1:n.5122-6del
XM_017022636.1:c.1999-6del XP_016878125.1:n.1999-6del
XR_931917.2:n.5176-6del
NM_025137.4:c.5122-6del MANE Select NP_079413.3:n.5122-6del
NM_001160227.2:c.5122-6del NP_001153699.1:n.5122-6del