Canonical Allele Identifier: CA713069186

Gene: SPG11

Linked Data

• ClinVar Variation Id: 960397
• ClinVar RCV Id: RCV001233912
• dbSNP Id: rs1422477670
• gnomAD v3: 15-44584531-G-GT
• gnomAD v4: 15-44584531-G-GT
• MyVariant Identifiers: chr15:g.44876729_44876730insT (hg19) ; chr15:g.44584531_44584532insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584535dup , CM000677.2:g.44584535dup	GRCh38
NC_000015.9:g.44876733dup , CM000677.1:g.44876733dup	GRCh37
NC_000015.8:g.42664025dup	NCBI36
NG_008885.1:g.84147dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5148dup	ENSP00000453246.2:p.His1717ThrfsTer3
ENST00000561391.2:n.1376dup
ENST00000682065.1:c.5122-118dup	ENSP00000507025.1:n.5122-118dup
ENST00000682460.1:c.*1405dup	ENSP00000508334.1:n.*1405dup
ENST00000682495.1:c.*1640dup	ENSP00000507166.1:n.*1640dup
ENST00000682669.1:c.4947dup	ENSP00000507782.1:p.His1650ThrfsTer3
ENST00000683186.1:c.*1911dup	ENSP00000507268.1:n.*1911dup
ENST00000683496.1:c.5148dup	ENSP00000506968.1:p.His1717ThrfsTer3
ENST00000683734.1:c.5148dup	ENSP00000508319.1:p.His1717ThrfsTer3
ENST00000683753.1:n.4194dup
ENST00000684038.1:c.*1568dup	ENSP00000507141.1:n.*1568dup
ENST00000684235.1:c.5148dup	ENSP00000508295.1:p.His1717ThrfsTer3
ENST00000684676.1:c.5148dup	ENSP00000506948.1:p.His1717ThrfsTer3
ENST00000261866.12:c.5148dup MANE Select	ENSP00000261866.7:p.His1717ThrfsTer3
ENST00000261866.11:c.5148dup	ENSP00000261866.7:p.His1717ThrfsTer3
ENST00000427534.6:c.5148dup	ENSP00000396110.2:p.His1717ThrfsTer3
ENST00000535302.6:c.5148dup	ENSP00000445278.2:p.His1717ThrfsTer3
ENST00000558319.5:c.5148dup	ENSP00000453599.1:p.His1717ThrfsTer3
ENST00000558790.5:n.585dup
NM_001160227.1:c.5148dup	NP_001153699.1:p.His1717ThrfsTer3
NM_025137.3:c.5148dup	NP_079413.3:p.His1717ThrfsTer3
XM_005254695.3:c.4890dup	XP_005254752.1:p.His1631ThrfsTer3
XM_006720700.1:c.5122-118dup	XP_006720763.1:n.5122-118dup
XM_017022634.1:c.5148dup	XP_016878123.1:p.His1717ThrfsTer3
XM_017022636.1:c.2025dup	XP_016878125.1:p.His676ThrfsTer3
XR_931917.2:n.5202dup
NM_025137.4:c.5148dup MANE Select	NP_079413.3:p.His1717ThrfsTer3
NM_001160227.2:c.5148dup	NP_001153699.1:p.His1717ThrfsTer3