Canonical Allele Identifier: CA16609533
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 402197
dbSNP Id: rs1060499768

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584506del , CM000677.2:g.44584506del GRCh38
NC_000015.9:g.44876704del , CM000677.1:g.44876704del GRCh37
NC_000015.8:g.42663996del NCBI36
NG_008885.1:g.84174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5175del ENSP00000453246.2:p.Ala1726GlnfsTer?
ENST00000561391.2:n.1403del
ENST00000682065.1:c.5122-91del ENSP00000507025.1:n.5122-91del
ENST00000682460.1:c.*1432del ENSP00000508334.1:n.*1432del
ENST00000682495.1:c.*1667del ENSP00000507166.1:n.*1667del
ENST00000682669.1:c.4974del ENSP00000507782.1:p.Ala1659GlnfsTer?
ENST00000683186.1:c.*1938del ENSP00000507268.1:n.*1938del
ENST00000683496.1:c.5175del ENSP00000506968.1:p.Ala1726GlnfsTer?
ENST00000683734.1:c.5175del ENSP00000508319.1:p.Ala1726GlnfsTer?
ENST00000683753.1:n.4221del
ENST00000684038.1:c.*1595del ENSP00000507141.1:n.*1595del
ENST00000684235.1:c.5175del ENSP00000508295.1:p.Ala1726GlnfsTer?
ENST00000684676.1:c.5175del ENSP00000506948.1:p.Ala1726GlnfsTer?
ENST00000261866.12:c.5175del MANE Select ENSP00000261866.7:p.Ala1726GlnfsTer?
ENST00000261866.11:c.5175del ENSP00000261866.7:p.Ala1726GlnfsTer?
ENST00000427534.6:c.5175del ENSP00000396110.2:p.Ala1726GlnfsTer?
ENST00000535302.6:c.5175del ENSP00000445278.2:p.Ala1726GlnfsTer?
ENST00000558319.5:c.5175del ENSP00000453599.1:p.Ala1726GlnfsTer?
ENST00000558790.5:n.612del
ENST00000559511.5:c.23del
NM_001160227.1:c.5175del NP_001153699.1:p.Ala1726GlnfsTer?
NM_025137.3:c.5175del NP_079413.3:p.Ala1726GlnfsTer?
XM_005254695.3:c.4917del XP_005254752.1:p.Ala1640GlnfsTer?
XM_006720700.1:c.5122-91del XP_006720763.1:n.5122-91del
XM_017022634.1:c.5175del XP_016878123.1:p.Ala1726GlnfsTer?
XM_017022636.1:c.2052del XP_016878125.1:p.Ala685GlnfsTer?
XR_931917.2:n.5229del
NM_025137.4:c.5175del MANE Select NP_079413.3:p.Ala1726GlnfsTer?
NM_001160227.2:c.5175del NP_001153699.1:p.Ala1726GlnfsTer?