Canonical Allele Identifier: CA344380
Community Standard Title: NM_025137.4(SPG11):c.6739_6742del (p.Glu2247LeufsTer14)
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44567437_44567440del , CM000677.2:g.44567437_44567440del GRCh38
NC_000015.9:g.44859635_44859638del , CM000677.1:g.44859635_44859638del GRCh37
NC_000015.8:g.42646927_42646930del NCBI36
NG_008885.1:g.101240_101243del

Transcript Alleles

HGVS Amino-acid Change
NM_025137.4:c.6739_6742del MANE Select NP_079413.3:p.Glu2247LeufsTer14
ENST00000261866.12:c.6739_6742del MANE Select ENSP00000261866.7:p.Glu2247LeufsTer14
NM_001160227.1:c.6400_6403del NP_001153699.1:p.Glu2134LeufsTer14
NM_001160227.2:c.6400_6403del NP_001153699.1:p.Glu2134LeufsTer14
NM_025137.3:c.6739_6742del NP_079413.3:p.Glu2247LeufsTer14
ENST00000261866.11:c.6739_6742del ENSP00000261866.7:p.Glu2247LeufsTer14
ENST00000427534.6:c.6739_6742del ENSP00000396110.2:p.Glu2247LeufsTer6
ENST00000535302.6:c.6400_6403del ENSP00000445278.2:p.Glu2134LeufsTer14
ENST00000558138.1:c.430_433del ENSP00000453314.1:p.Glu144LeufsTer14
ENST00000558138.2:c.430_433del ENSP00000453314.2:p.Glu144LeufsTer14
ENST00000559347.1:n.568_571del
ENST00000559511.5:c.1110_1113del
ENST00000559511.6:c.6262_6265del ENSP00000453246.2:p.Glu2088LeufsTer14
ENST00000561268.5:n.429_432del
ENST00000682065.1:c.6595_6598del ENSP00000507025.1:p.Glu2199LeufsTer14
ENST00000682460.1:c.*2996_*2999del ENSP00000508334.1:n.*2996_*2999del
ENST00000682495.1:c.*3231_*3234del ENSP00000507166.1:n.*3231_*3234del
ENST00000682669.1:c.6538_6541del ENSP00000507782.1:p.Glu2180LeufsTer14
ENST00000683186.1:c.*3502_*3505del ENSP00000507268.1:n.*3502_*3505del
ENST00000683496.1:c.*381_*384del ENSP00000506968.1:n.*381_*384del
ENST00000683734.1:c.*689_*692del ENSP00000508319.1:n.*689_*692del
ENST00000683753.1:n.5785_5788del
ENST00000684038.1:c.*3159_*3162del ENSP00000507141.1:n.*3159_*3162del
ENST00000684235.1:c.6739_6742del ENSP00000508295.1:p.Glu2247LeufsTer14
XM_005254695.3:c.6481_6484del XP_005254752.1:p.Glu2161LeufsTer14
XM_006720700.1:c.6595_6598del XP_006720763.1:p.Glu2199LeufsTer14
XM_017022634.1:c.6631_6634del XP_016878123.1:p.Glu2211LeufsTer14
XM_017022636.1:c.3616_3619del XP_016878125.1:p.Glu1206LeufsTer14