Canonical Allele Identifier: CA2628202013

Gene: SPG11

Linked Data

• gnomAD v4: 15-44584378-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584379del , CM000677.2:g.44584379del	GRCh38
NC_000015.9:g.44876577del , CM000677.1:g.44876577del	GRCh37
NC_000015.8:g.42663869del	NCBI36
NG_008885.1:g.84300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5301del	ENSP00000453246.2:p.Ser1767ArgfsTer?
ENST00000561391.2:n.1529del
ENST00000682065.1:c.5157del	ENSP00000507025.1:p.Ser1719ArgfsTer?
ENST00000682460.1:c.*1558del	ENSP00000508334.1:n.*1558del
ENST00000682495.1:c.*1793del	ENSP00000507166.1:n.*1793del
ENST00000682669.1:c.5100del	ENSP00000507782.1:p.Ser1700ArgfsTer?
ENST00000683186.1:c.*2064del	ENSP00000507268.1:n.*2064del
ENST00000683496.1:c.5301del	ENSP00000506968.1:p.Ser1767ArgfsTer?
ENST00000683734.1:c.5301del	ENSP00000508319.1:p.Ser1767ArgfsTer?
ENST00000683753.1:n.4347del
ENST00000684038.1:c.*1721del	ENSP00000507141.1:n.*1721del
ENST00000684235.1:c.5301del	ENSP00000508295.1:p.Ser1767ArgfsTer?
ENST00000684676.1:c.5301del	ENSP00000506948.1:p.Ser1767ArgfsTer?
ENST00000261866.12:c.5301del MANE Select	ENSP00000261866.7:p.Ser1767ArgfsTer?
ENST00000261866.11:c.5301del	ENSP00000261866.7:p.Ser1767ArgfsTer?
ENST00000427534.6:c.5301del	ENSP00000396110.2:p.Ser1767ArgfsTer?
ENST00000535302.6:c.5301del	ENSP00000445278.2:p.Ser1767ArgfsTer?
ENST00000558319.5:c.5301del	ENSP00000453599.1:p.Ser1767ArgfsTer?
ENST00000558790.5:n.738del
ENST00000559511.5:c.149del
ENST00000559822.1:c.73del
NM_001160227.1:c.5301del	NP_001153699.1:p.Ser1767ArgfsTer?
NM_025137.3:c.5301del	NP_079413.3:p.Ser1767ArgfsTer?
XM_005254695.3:c.5043del	XP_005254752.1:p.Ser1681ArgfsTer?
XM_006720700.1:c.5157del	XP_006720763.1:p.Ser1719ArgfsTer?
XM_017022634.1:c.5301del	XP_016878123.1:p.Ser1767ArgfsTer?
XM_017022636.1:c.2178del	XP_016878125.1:p.Ser726ArgfsTer?
XR_931917.2:n.5355del
NM_025137.4:c.5301del MANE Select	NP_079413.3:p.Ser1767ArgfsTer?
NM_001160227.2:c.5301del	NP_001153699.1:p.Ser1767ArgfsTer?