Canonical Allele Identifier: CA2573151004

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1457718
• ClinVar RCV Id: RCV001953908
• dbSNP Id: rs2140978275

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598782_44598792del , CM000677.2:g.44598782_44598792del	GRCh38
NC_000015.9:g.44890980_44890990del , CM000677.1:g.44890980_44890990del	GRCh37
NC_000015.8:g.42678272_42678282del	NCBI36
NG_008885.1:g.69892_69902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3736_3746del	ENSP00000453246.2:p.His1246AsnfsTer15
ENST00000682065.1:c.3736_3746del	ENSP00000507025.1:p.His1246AsnfsTer15
ENST00000682460.1:c.*156_*166del	ENSP00000508334.1:n.*156_*166del
ENST00000682495.1:c.*228_*238del	ENSP00000507166.1:n.*228_*238del
ENST00000682669.1:c.3535_3545del	ENSP00000507782.1:p.His1179AsnfsTer15
ENST00000682788.1:c.3736_3746del	ENSP00000508089.1:p.His1246AsnfsTer15
ENST00000682915.1:c.3829_3839del	ENSP00000507493.1:n.3829_3839del
ENST00000683121.1:c.3736_3746del	ENSP00000507557.1:p.His1246AsnfsTer15
ENST00000683186.1:c.*499_*509del	ENSP00000507268.1:n.*499_*509del
ENST00000683496.1:c.3736_3746del	ENSP00000506968.1:p.His1246AsnfsTer15
ENST00000683734.1:c.3736_3746del	ENSP00000508319.1:p.His1246AsnfsTer15
ENST00000683753.1:n.2782_2792del
ENST00000683838.1:n.810_820del
ENST00000684038.1:c.*156_*166del	ENSP00000507141.1:n.*156_*166del
ENST00000684235.1:c.3736_3746del	ENSP00000508295.1:p.His1246AsnfsTer15
ENST00000684676.1:c.3736_3746del	ENSP00000506948.1:p.His1246AsnfsTer15
ENST00000261866.12:c.3736_3746del MANE Select	ENSP00000261866.7:p.His1246AsnfsTer15
ENST00000261866.11:c.3736_3746del	ENSP00000261866.7:p.His1246AsnfsTer15
ENST00000427534.6:c.3736_3746del	ENSP00000396110.2:p.His1246AsnfsTer15
ENST00000535302.6:c.3736_3746del	ENSP00000445278.2:p.His1246AsnfsTer15
ENST00000558093.1:n.350_360del
ENST00000558319.5:c.3736_3746del	ENSP00000453599.1:p.His1246AsnfsTer15
NM_001160227.1:c.3736_3746del	NP_001153699.1:p.His1246AsnfsTer15
NM_025137.3:c.3736_3746del	NP_079413.3:p.His1246AsnfsTer15
XM_005254695.3:c.3478_3488del	XP_005254752.1:p.His1160AsnfsTer15
XM_006720700.1:c.3736_3746del	XP_006720763.1:p.His1246AsnfsTer15
XM_006720701.2:c.3736_3746del	XP_006720764.1:p.His1246AsnfsTer15
XM_011522093.1:c.3687-414_3687-404del	XP_011520395.1:n.3687-414_3687-404del
XR_931917.1:n.3767_3777del
XM_006720701.3:c.3736_3746del	XP_006720764.1:p.His1246AsnfsTer15
XM_017022634.1:c.3736_3746del	XP_016878123.1:p.His1246AsnfsTer15
XM_017022635.2:c.3736_3746del	XP_016878124.1:p.His1246AsnfsTer15
XM_017022636.1:c.613_623del	XP_016878125.1:p.His205AsnfsTer15
XR_001751402.1:n.3718-414_3718-404del
XR_931917.2:n.3767_3777del
NM_025137.4:c.3736_3746del MANE Select	NP_079413.3:p.His1246AsnfsTer15
NM_001160227.2:c.3736_3746del	NP_001153699.1:p.His1246AsnfsTer15