Canonical Allele Identifier: CA2173685876

Gene: SPG11

Linked Data

• dbSNP Id: rs2082710878

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584211del , CM000677.2:g.44584211del	GRCh38
NC_000015.9:g.44876409del , CM000677.1:g.44876409del	GRCh37
NC_000015.8:g.42663701del	NCBI36
NG_008885.1:g.84468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5469del	ENSP00000453246.2:p.Arg1824AspfsTer14
ENST00000561391.2:n.1697del
ENST00000682065.1:c.5325del	ENSP00000507025.1:p.Arg1776AspfsTer14
ENST00000682460.1:c.*1726del	ENSP00000508334.1:n.*1726del
ENST00000682495.1:c.*1961del	ENSP00000507166.1:n.*1961del
ENST00000682669.1:c.5268del	ENSP00000507782.1:p.Arg1757AspfsTer14
ENST00000683186.1:c.*2232del	ENSP00000507268.1:n.*2232del
ENST00000683496.1:c.5469del	ENSP00000506968.1:p.Arg1824AspfsTer14
ENST00000683734.1:c.5469del	ENSP00000508319.1:p.Arg1824AspfsTer14
ENST00000683753.1:n.4515del
ENST00000684038.1:c.*1889del	ENSP00000507141.1:n.*1889del
ENST00000684235.1:c.5469del	ENSP00000508295.1:p.Arg1824AspfsTer14
ENST00000684676.1:c.5469del	ENSP00000506948.1:p.Arg1824AspfsTer14
ENST00000261866.12:c.5469del MANE Select	ENSP00000261866.7:p.Arg1824AspfsTer14
ENST00000261866.11:c.5469del	ENSP00000261866.7:p.Arg1824AspfsTer14
ENST00000427534.6:c.5469del	ENSP00000396110.2:p.Arg1824AspfsTer14
ENST00000535302.6:c.5469del	ENSP00000445278.2:p.Arg1824AspfsTer14
ENST00000558319.5:c.5469del	ENSP00000453599.1:p.Arg1824AspfsTer14
ENST00000559511.5:c.317del
ENST00000559822.1:c.241del
NM_001160227.1:c.5469del	NP_001153699.1:p.Arg1824AspfsTer14
NM_025137.3:c.5469del	NP_079413.3:p.Arg1824AspfsTer14
XM_005254695.3:c.5211del	XP_005254752.1:p.Arg1738AspfsTer14
XM_006720700.1:c.5325del	XP_006720763.1:p.Arg1776AspfsTer14
XM_017022634.1:c.5469del	XP_016878123.1:p.Arg1824AspfsTer14
XM_017022636.1:c.2346del	XP_016878125.1:p.Arg783AspfsTer14
NM_025137.4:c.5469del MANE Select	NP_079413.3:p.Arg1824AspfsTer14
NM_001160227.2:c.5469del	NP_001153699.1:p.Arg1824AspfsTer14