Canonical Allele Identifier: CA2582342616

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2627046
• ClinVar RCV Id: RCV003388244

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44573564_44573565del , CM000677.2:g.44573564_44573565del	GRCh38
NC_000015.9:g.44865762_44865763del , CM000677.1:g.44865762_44865763del	GRCh37
NC_000015.8:g.42653054_42653055del	NCBI36
NG_008885.1:g.95114_95115del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-2907_5867-2906del	ENSP00000453246.2:n.5867-2907_5867-2906del
ENST00000561391.2:n.2415_2416del
ENST00000682065.1:c.6043_6044del	ENSP00000507025.1:p.Thr2015PhefsTer8
ENST00000682460.1:c.*2444_*2445del	ENSP00000508334.1:n.*2444_*2445del
ENST00000682495.1:c.*2679_*2680del	ENSP00000507166.1:n.*2679_*2680del
ENST00000682669.1:c.5986_5987del	ENSP00000507782.1:p.Thr1996PhefsTer8
ENST00000683186.1:c.*2950_*2951del	ENSP00000507268.1:n.*2950_*2951del
ENST00000683496.1:c.6006+1337_6006+1338del	ENSP00000506968.1:n.6006+1337_6006+1338del
ENST00000683734.1:c.*137_*138del	ENSP00000508319.1:n.*137_*138del
ENST00000683753.1:n.5233_5234del
ENST00000684038.1:c.*2607_*2608del	ENSP00000507141.1:n.*2607_*2608del
ENST00000684235.1:c.6187_6188del	ENSP00000508295.1:p.Thr2063PhefsTer8
ENST00000684676.1:c.*336_*337del	ENSP00000506948.1:n.*336_*337del
ENST00000261866.12:c.6187_6188del MANE Select	ENSP00000261866.7:p.Thr2063PhefsTer8
ENST00000261866.11:c.6187_6188del	ENSP00000261866.7:p.Thr2063PhefsTer8
ENST00000427534.6:c.6187_6188del	ENSP00000396110.2:p.Thr2063PhefsTer8
ENST00000535302.6:c.5867-745_5867-744del	ENSP00000445278.2:n.5867-745_5867-744del
ENST00000558080.1:n.552_553del
ENST00000558319.5:c.6187_6188del	ENSP00000453599.1:p.Thr2063PhefsTer26
ENST00000559511.5:c.715-2907_715-2906del
ENST00000559933.1:n.256_257del
ENST00000561268.5:n.119_120del
NM_001160227.1:c.5867-745_5867-744del	NP_001153699.1:n.5867-745_5867-744del
NM_025137.3:c.6187_6188del	NP_079413.3:p.Thr2063PhefsTer8
XM_005254695.3:c.5929_5930del	XP_005254752.1:p.Thr1977PhefsTer8
XM_006720700.1:c.6043_6044del	XP_006720763.1:p.Thr2015PhefsTer8
XM_017022634.1:c.6187_6188del	XP_016878123.1:p.Thr2063PhefsTer8
XM_017022636.1:c.3064_3065del	XP_016878125.1:p.Thr1022PhefsTer8
NM_025137.4:c.6187_6188del MANE Select	NP_079413.3:p.Thr2063PhefsTer8
NM_001160227.2:c.5867-745_5867-744del	NP_001153699.1:n.5867-745_5867-744del