Canonical Allele Identifier: CA2575708334
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44570556del , CM000677.2:g.44570556del GRCh38
NC_000015.9:g.44862754del , CM000677.1:g.44862754del GRCh37
NC_000015.8:g.42650046del NCBI36
NG_008885.1:g.98123del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558138.2:c.245del ENSP00000453314.2:p.His82ProfsTer11
ENST00000559511.6:c.5969del ENSP00000453246.2:p.His1990ProfsTer24
ENST00000682065.1:c.6302del ENSP00000507025.1:p.His2101ProfsTer24
ENST00000682460.1:c.*2703del ENSP00000508334.1:n.*2703del
ENST00000682495.1:c.*2938del ENSP00000507166.1:n.*2938del
ENST00000682669.1:c.6245del ENSP00000507782.1:p.His2082ProfsTer24
ENST00000683186.1:c.*3209del ENSP00000507268.1:n.*3209del
ENST00000683496.1:c.*88del ENSP00000506968.1:n.*88del
ENST00000683734.1:c.*396del ENSP00000508319.1:n.*396del
ENST00000683753.1:n.5492del
ENST00000684038.1:c.*2866del ENSP00000507141.1:n.*2866del
ENST00000684235.1:c.6446del ENSP00000508295.1:p.His2149ProfsTer24
ENST00000261866.12:c.6446del MANE Select ENSP00000261866.7:p.His2149ProfsTer24
ENST00000261866.11:c.6446del ENSP00000261866.7:p.His2149ProfsTer24
ENST00000427534.6:c.6446del ENSP00000396110.2:p.His2149ProfsTer24
ENST00000535302.6:c.6107del ENSP00000445278.2:p.His2036ProfsTer24
ENST00000558138.1:c.245del ENSP00000453314.1:p.His82ProfsTer11
ENST00000559347.1:n.275del
ENST00000559511.5:c.817del
ENST00000559933.1:n.515del
ENST00000561268.5:n.275+2127del
NM_001160227.1:c.6107del NP_001153699.1:p.His2036ProfsTer24
NM_025137.3:c.6446del NP_079413.3:p.His2149ProfsTer24
XM_005254695.3:c.6188del XP_005254752.1:p.His2063ProfsTer24
XM_006720700.1:c.6302del XP_006720763.1:p.His2101ProfsTer24
XM_017022634.1:c.6446del XP_016878123.1:p.His2149ProfsTer11
XM_017022636.1:c.3323del XP_016878125.1:p.His1108ProfsTer24
NM_025137.4:c.6446del MANE Select NP_079413.3:p.His2149ProfsTer24
NM_001160227.2:c.6107del NP_001153699.1:p.His2036ProfsTer24