Canonical Allele Identifier: CA2575708433
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44584226_44584234del , CM000677.2:g.44584226_44584234del GRCh38
NC_000015.9:g.44876424_44876432del , CM000677.1:g.44876424_44876432del GRCh37
NC_000015.8:g.42663716_42663724del NCBI36
NG_008885.1:g.84448_84456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.5449_5457del ENSP00000453246.2:p.Glu1817_Glu1819del
ENST00000561391.2:n.1677_1685del
ENST00000682065.1:c.5305_5313del ENSP00000507025.1:p.Glu1769_Glu1771del
ENST00000682460.1:c.*1706_*1714del ENSP00000508334.1:n.*1706_*1714del
ENST00000682495.1:c.*1941_*1949del ENSP00000507166.1:n.*1941_*1949del
ENST00000682669.1:c.5248_5256del ENSP00000507782.1:p.Glu1750_Glu1752del
ENST00000683186.1:c.*2212_*2220del ENSP00000507268.1:n.*2212_*2220del
ENST00000683496.1:c.5449_5457del ENSP00000506968.1:p.Glu1817_Glu1819del
ENST00000683734.1:c.5449_5457del ENSP00000508319.1:p.Glu1817_Glu1819del
ENST00000683753.1:n.4495_4503del
ENST00000684038.1:c.*1869_*1877del ENSP00000507141.1:n.*1869_*1877del
ENST00000684235.1:c.5449_5457del ENSP00000508295.1:p.Glu1817_Glu1819del
ENST00000684676.1:c.5449_5457del ENSP00000506948.1:p.Glu1817_Glu1819del
ENST00000261866.12:c.5449_5457del MANE Select ENSP00000261866.7:p.Glu1817_Glu1819del
ENST00000261866.11:c.5449_5457del ENSP00000261866.7:p.Glu1817_Glu1819del
ENST00000427534.6:c.5449_5457del ENSP00000396110.2:p.Glu1817_Glu1819del
ENST00000535302.6:c.5449_5457del ENSP00000445278.2:p.Glu1817_Glu1819del
ENST00000558319.5:c.5449_5457del ENSP00000453599.1:p.Glu1817_Glu1819del
ENST00000559511.5:c.297_305del
ENST00000559822.1:c.221_229del
NM_001160227.1:c.5449_5457del NP_001153699.1:p.Glu1817_Glu1819del
NM_025137.3:c.5449_5457del NP_079413.3:p.Glu1817_Glu1819del
XM_005254695.3:c.5191_5199del XP_005254752.1:p.Glu1731_Glu1733del
XM_006720700.1:c.5305_5313del XP_006720763.1:p.Glu1769_Glu1771del
XM_017022634.1:c.5449_5457del XP_016878123.1:p.Glu1817_Glu1819del
XM_017022636.1:c.2326_2334del XP_016878125.1:p.Glu776_Glu778del
NM_025137.4:c.5449_5457del MANE Select NP_079413.3:p.Glu1817_Glu1819del
NM_001160227.2:c.5449_5457del NP_001153699.1:p.Glu1817_Glu1819del