Canonical Allele Identifier: CA2628202158
Gene: SPG11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44573673del , CM000677.2:g.44573673del GRCh38
NC_000015.9:g.44865871del , CM000677.1:g.44865871del GRCh37
NC_000015.8:g.42653163del NCBI36
NG_008885.1:g.95006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5867-3015del ENSP00000453246.2:n.5867-3015del
ENST00000561391.2:n.2307del
ENST00000682065.1:c.5935del ENSP00000507025.1:p.Gln1979SerfsTer?
ENST00000682460.1:c.*2336del ENSP00000508334.1:n.*2336del
ENST00000682495.1:c.*2571del ENSP00000507166.1:n.*2571del
ENST00000682669.1:c.5878del ENSP00000507782.1:p.Gln1960SerfsTer?
ENST00000683186.1:c.*2842del ENSP00000507268.1:n.*2842del
ENST00000683496.1:c.6006+1229del ENSP00000506968.1:n.6006+1229del
ENST00000683734.1:c.*29del ENSP00000508319.1:n.*29del
ENST00000683753.1:n.5125del
ENST00000684038.1:c.*2499del ENSP00000507141.1:n.*2499del
ENST00000684235.1:c.6079del ENSP00000508295.1:p.Gln2027SerfsTer?
ENST00000684676.1:c.*228del ENSP00000506948.1:n.*228del
ENST00000261866.12:c.6079del MANE Select ENSP00000261866.7:p.Gln2027SerfsTer?
ENST00000261866.11:c.6079del ENSP00000261866.7:p.Gln2027SerfsTer?
ENST00000427534.6:c.6079del ENSP00000396110.2:p.Gln2027SerfsTer?
ENST00000535302.6:c.5867-853del ENSP00000445278.2:n.5867-853del
ENST00000558080.1:n.444del
ENST00000558319.5:c.6079del ENSP00000453599.1:p.Gln2027SerfsTer?
ENST00000559511.5:c.715-3015del
ENST00000559933.1:n.148del
ENST00000561268.5:n.11del
NM_001160227.1:c.5867-853del NP_001153699.1:n.5867-853del
NM_025137.3:c.6079del NP_079413.3:p.Gln2027SerfsTer?
XM_005254695.3:c.5821del XP_005254752.1:p.Gln1941SerfsTer?
XM_006720700.1:c.5935del XP_006720763.1:p.Gln1979SerfsTer?
XM_017022634.1:c.6079del XP_016878123.1:p.Gln2027SerfsTer?
XM_017022636.1:c.2956del XP_016878125.1:p.Gln986SerfsTer?
NM_025137.4:c.6079del MANE Select NP_079413.3:p.Gln2027SerfsTer?
NM_001160227.2:c.5867-853del NP_001153699.1:n.5867-853del