Canonical Allele Identifier: CA2695220065

Gene: SPG11

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44565961_44565963del , CM000677.2:g.44565961_44565963del	GRCh38
NC_000015.9:g.44858159_44858161del , CM000677.1:g.44858159_44858161del	GRCh37
NC_000015.8:g.42645451_42645453del	NCBI36
NG_008885.1:g.102717_102719del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.582_584del	ENSP00000453314.2:p.Ile195del
ENST00000559511.6:c.6414_6416del	ENSP00000453246.2:p.Ile2139del
ENST00000682065.1:c.6747_6749del	ENSP00000507025.1:p.Ile2250del
ENST00000682460.1:c.*3148_*3150del	ENSP00000508334.1:n.*3148_*3150del
ENST00000682495.1:c.*3383_*3385del	ENSP00000507166.1:n.*3383_*3385del
ENST00000682669.1:c.6690_6692del	ENSP00000507782.1:p.Ile2231del
ENST00000683186.1:c.*3654_*3656del	ENSP00000507268.1:n.*3654_*3656del
ENST00000683496.1:c.*533_*535del	ENSP00000506968.1:n.*533_*535del
ENST00000683734.1:c.*841_*843del	ENSP00000508319.1:n.*841_*843del
ENST00000683753.1:n.5937_5939del
ENST00000684038.1:c.*3311_*3313del	ENSP00000507141.1:n.*3311_*3313del
ENST00000684235.1:c.6891_6893del	ENSP00000508295.1:p.Ile2298del
ENST00000261866.12:c.6891_6893del MANE Select	ENSP00000261866.7:p.Ile2298del
ENST00000261866.11:c.6891_6893del	ENSP00000261866.7:p.Ile2298del
ENST00000427534.6:c.6754+1462_6754+1464del	ENSP00000396110.2:n.6754+1462_6754+1464del
ENST00000535302.6:c.6552_6554del	ENSP00000445278.2:p.Ile2185del
ENST00000558138.1:c.582_584del	ENSP00000453314.1:p.Ile195del
ENST00000559511.5:c.1262_1264del
ENST00000560299.1:n.183_185del
NM_001160227.1:c.6552_6554del	NP_001153699.1:p.Ile2185del
NM_025137.3:c.6891_6893del	NP_079413.3:p.Ile2298del
XM_005254695.3:c.6633_6635del	XP_005254752.1:p.Ile2212del
XM_006720700.1:c.6747_6749del	XP_006720763.1:p.Ile2250del
XM_017022634.1:c.6783_6785del	XP_016878123.1:p.Ile2262del
XM_017022636.1:c.3768_3770del	XP_016878125.1:p.Ile1257del
NM_025137.4:c.6891_6893del MANE Select	NP_079413.3:p.Ile2298del
NM_001160227.2:c.6552_6554del	NP_001153699.1:p.Ile2185del