Canonical Allele Identifier: CA2739290637

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44583993_44583997del , CM000677.2:g.44583993_44583997del	GRCh38
NC_000015.9:g.44876191_44876195del , CM000677.1:g.44876191_44876195del	GRCh37
NC_000015.8:g.42663483_42663487del	NCBI36
NG_008885.1:g.84686_84690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5687_5691del	ENSP00000453246.2:p.Arg1896MetfsTer8
ENST00000561391.2:n.1915_1919del
ENST00000682065.1:c.5543_5547del	ENSP00000507025.1:p.Arg1848MetfsTer8
ENST00000682460.1:c.*1944_*1948del	ENSP00000508334.1:n.*1944_*1948del
ENST00000682495.1:c.*2179_*2183del	ENSP00000507166.1:n.*2179_*2183del
ENST00000682669.1:c.5486_5490del	ENSP00000507782.1:p.Arg1829MetfsTer8
ENST00000683186.1:c.*2450_*2454del	ENSP00000507268.1:n.*2450_*2454del
ENST00000683496.1:c.5687_5691del	ENSP00000506968.1:p.Arg1896MetfsTer8
ENST00000683734.1:c.5687_5691del	ENSP00000508319.1:p.Arg1896MetfsTer8
ENST00000683753.1:n.4733_4737del
ENST00000684038.1:c.*2107_*2111del	ENSP00000507141.1:n.*2107_*2111del
ENST00000684235.1:c.5687_5691del	ENSP00000508295.1:p.Arg1896MetfsTer8
ENST00000684676.1:c.5516-58_5516-54del	ENSP00000506948.1:n.5516-58_5516-54del
ENST00000261866.12:c.5687_5691del MANE Select	ENSP00000261866.7:p.Arg1896MetfsTer8
ENST00000261866.11:c.5687_5691del	ENSP00000261866.7:p.Arg1896MetfsTer8
ENST00000427534.6:c.5687_5691del	ENSP00000396110.2:p.Arg1896MetfsTer8
ENST00000535302.6:c.5687_5691del	ENSP00000445278.2:p.Arg1896MetfsTer8
ENST00000558319.5:c.5687_5691del	ENSP00000453599.1:p.Arg1896MetfsTer8
ENST00000559511.5:c.535_539del
ENST00000559822.1:c.288-58_288-54del
NM_001160227.1:c.5687_5691del	NP_001153699.1:p.Arg1896MetfsTer8
NM_025137.3:c.5687_5691del	NP_079413.3:p.Arg1896MetfsTer8
XM_005254695.3:c.5429_5433del	XP_005254752.1:p.Arg1810MetfsTer8
XM_006720700.1:c.5543_5547del	XP_006720763.1:p.Arg1848MetfsTer8
XM_017022634.1:c.5687_5691del	XP_016878123.1:p.Arg1896MetfsTer8
XM_017022636.1:c.2564_2568del	XP_016878125.1:p.Arg855MetfsTer8
NM_025137.4:c.5687_5691del MANE Select	NP_079413.3:p.Arg1896MetfsTer8
NM_001160227.2:c.5687_5691del	NP_001153699.1:p.Arg1896MetfsTer8