Canonical Allele Identifier: CA2803976121

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584270_44584274del , CM000677.2:g.44584270_44584274del	GRCh38
NC_000015.9:g.44876468_44876472del , CM000677.1:g.44876468_44876472del	GRCh37
NC_000015.8:g.42663760_42663764del	NCBI36
NG_008885.1:g.84407_84411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5408_5412del	ENSP00000453246.2:p.Leu1803ProfsTer25
ENST00000561391.2:n.1636_1640del
ENST00000682065.1:c.5264_5268del	ENSP00000507025.1:p.Leu1755ProfsTer25
ENST00000682460.1:c.*1665_*1669del	ENSP00000508334.1:n.*1665_*1669del
ENST00000682495.1:c.*1900_*1904del	ENSP00000507166.1:n.*1900_*1904del
ENST00000682669.1:c.5207_5211del	ENSP00000507782.1:p.Leu1736ProfsTer25
ENST00000683186.1:c.*2171_*2175del	ENSP00000507268.1:n.*2171_*2175del
ENST00000683496.1:c.5408_5412del	ENSP00000506968.1:p.Leu1803ProfsTer25
ENST00000683734.1:c.5408_5412del	ENSP00000508319.1:p.Leu1803ProfsTer25
ENST00000683753.1:n.4454_4458del
ENST00000684038.1:c.*1828_*1832del	ENSP00000507141.1:n.*1828_*1832del
ENST00000684235.1:c.5408_5412del	ENSP00000508295.1:p.Leu1803ProfsTer25
ENST00000684676.1:c.5408_5412del	ENSP00000506948.1:p.Leu1803ProfsTer25
ENST00000261866.12:c.5408_5412del MANE Select	ENSP00000261866.7:p.Leu1803ProfsTer25
ENST00000261866.11:c.5408_5412del	ENSP00000261866.7:p.Leu1803ProfsTer25
ENST00000427534.6:c.5408_5412del	ENSP00000396110.2:p.Leu1803ProfsTer25
ENST00000535302.6:c.5408_5412del	ENSP00000445278.2:p.Leu1803ProfsTer25
ENST00000558319.5:c.5408_5412del	ENSP00000453599.1:p.Leu1803ProfsTer25
ENST00000558790.5:n.845_849del
ENST00000559511.5:c.256_260del
ENST00000559822.1:c.180_184del
NM_001160227.1:c.5408_5412del	NP_001153699.1:p.Leu1803ProfsTer25
NM_025137.3:c.5408_5412del	NP_079413.3:p.Leu1803ProfsTer25
XM_005254695.3:c.5150_5154del	XP_005254752.1:p.Leu1717ProfsTer25
XM_006720700.1:c.5264_5268del	XP_006720763.1:p.Leu1755ProfsTer25
XM_017022634.1:c.5408_5412del	XP_016878123.1:p.Leu1803ProfsTer25
XM_017022636.1:c.2285_2289del	XP_016878125.1:p.Leu762ProfsTer25
XR_931917.2:n.5462_5466del
NM_025137.4:c.5408_5412del MANE Select	NP_079413.3:p.Leu1803ProfsTer25
NM_001160227.2:c.5408_5412del	NP_001153699.1:p.Leu1803ProfsTer25