Canonical Allele Identifier: CA713069384
Gene: SPG11 HGNC NCBI

Linked Data

dbSNP Id: rs1260301870

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584693del , CM000677.2:g.44584693del GRCh38
NC_000015.9:g.44876891del , CM000677.1:g.44876891del GRCh37
NC_000015.8:g.42664183del NCBI36
NG_008885.1:g.83986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5122-135del ENSP00000453246.2:n.5122-135del
ENST00000561391.2:n.1350-135del
ENST00000682065.1:c.5122-279del ENSP00000507025.1:n.5122-279del
ENST00000682460.1:c.*1379-135del ENSP00000508334.1:n.*1379-135del
ENST00000682495.1:c.*1614-135del ENSP00000507166.1:n.*1614-135del
ENST00000682669.1:c.4921-135del ENSP00000507782.1:n.4921-135del
ENST00000683186.1:c.*1885-135del ENSP00000507268.1:n.*1885-135del
ENST00000683496.1:c.5122-135del ENSP00000506968.1:n.5122-135del
ENST00000683734.1:c.5122-135del ENSP00000508319.1:n.5122-135del
ENST00000683753.1:n.4168-135del
ENST00000684038.1:c.*1542-135del ENSP00000507141.1:n.*1542-135del
ENST00000684235.1:c.5122-135del ENSP00000508295.1:n.5122-135del
ENST00000684676.1:c.5122-135del ENSP00000506948.1:n.5122-135del
ENST00000261866.12:c.5122-135del MANE Select ENSP00000261866.7:n.5122-135del
ENST00000261866.11:c.5122-135del ENSP00000261866.7:n.5122-135del
ENST00000427534.6:c.5122-135del ENSP00000396110.2:n.5122-135del
ENST00000535302.6:c.5122-135del ENSP00000445278.2:n.5122-135del
ENST00000558319.5:c.5122-135del ENSP00000453599.1:n.5122-135del
ENST00000558790.5:n.559-135del
NM_001160227.1:c.5122-135del NP_001153699.1:n.5122-135del
NM_025137.3:c.5122-135del NP_079413.3:n.5122-135del
XM_005254695.3:c.4864-135del XP_005254752.1:n.4864-135del
XM_006720700.1:c.5122-279del XP_006720763.1:n.5122-279del
XM_017022634.1:c.5122-135del XP_016878123.1:n.5122-135del
XM_017022636.1:c.1999-135del XP_016878125.1:n.1999-135del
XR_931917.2:n.5176-135del
NM_025137.4:c.5122-135del MANE Select NP_079413.3:n.5122-135del
NM_001160227.2:c.5122-135del NP_001153699.1:n.5122-135del