Canonical Allele Identifier: CA2695220746

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584226dup , CM000677.2:g.44584226dup	GRCh38
NC_000015.9:g.44876424dup , CM000677.1:g.44876424dup	GRCh37
NC_000015.8:g.42663716dup	NCBI36
NG_008885.1:g.84453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5454dup	ENSP00000453246.2:p.Glu1819ArgfsTer11
ENST00000561391.2:n.1682dup
ENST00000682065.1:c.5310dup	ENSP00000507025.1:p.Glu1771ArgfsTer11
ENST00000682460.1:c.*1711dup	ENSP00000508334.1:n.*1711dup
ENST00000682495.1:c.*1946dup	ENSP00000507166.1:n.*1946dup
ENST00000682669.1:c.5253dup	ENSP00000507782.1:p.Glu1752ArgfsTer11
ENST00000683186.1:c.*2217dup	ENSP00000507268.1:n.*2217dup
ENST00000683496.1:c.5454dup	ENSP00000506968.1:p.Glu1819ArgfsTer11
ENST00000683734.1:c.5454dup	ENSP00000508319.1:p.Glu1819ArgfsTer11
ENST00000683753.1:n.4500dup
ENST00000684038.1:c.*1874dup	ENSP00000507141.1:n.*1874dup
ENST00000684235.1:c.5454dup	ENSP00000508295.1:p.Glu1819ArgfsTer11
ENST00000684676.1:c.5454dup	ENSP00000506948.1:p.Glu1819ArgfsTer11
ENST00000261866.12:c.5454dup MANE Select	ENSP00000261866.7:p.Glu1819ArgfsTer11
ENST00000261866.11:c.5454dup	ENSP00000261866.7:p.Glu1819ArgfsTer11
ENST00000427534.6:c.5454dup	ENSP00000396110.2:p.Glu1819ArgfsTer11
ENST00000535302.6:c.5454dup	ENSP00000445278.2:p.Glu1819ArgfsTer11
ENST00000558319.5:c.5454dup	ENSP00000453599.1:p.Glu1819ArgfsTer11
ENST00000559511.5:c.302dup
ENST00000559822.1:c.226dup
NM_001160227.1:c.5454dup	NP_001153699.1:p.Glu1819ArgfsTer11
NM_025137.3:c.5454dup	NP_079413.3:p.Glu1819ArgfsTer11
XM_005254695.3:c.5196dup	XP_005254752.1:p.Glu1733ArgfsTer11
XM_006720700.1:c.5310dup	XP_006720763.1:p.Glu1771ArgfsTer11
XM_017022634.1:c.5454dup	XP_016878123.1:p.Glu1819ArgfsTer11
XM_017022636.1:c.2331dup	XP_016878125.1:p.Glu778ArgfsTer11
NM_025137.4:c.5454dup MANE Select	NP_079413.3:p.Glu1819ArgfsTer11
NM_001160227.2:c.5454dup	NP_001153699.1:p.Glu1819ArgfsTer11