Canonical Allele Identifier: CA490330202

Gene: SPG11

Linked Data

• ClinVar Variation Id: 3001558
• ClinVar RCV Id: RCV003855181
• dbSNP Id: rs2082715392
• gnomAD v3: 15-44584389-G-GT
• gnomAD v4: 15-44584389-G-GT
• MyVariant Identifiers: chr15:g.44876587_44876588insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584391dup , CM000677.2:g.44584391dup	GRCh38
NC_000015.9:g.44876589dup , CM000677.1:g.44876589dup	GRCh37
NC_000015.8:g.42663881dup	NCBI36
NG_008885.1:g.84289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5290dup	ENSP00000453246.2:p.Thr1764AsnfsTer30
ENST00000561391.2:n.1518dup
ENST00000682065.1:c.5146dup	ENSP00000507025.1:p.Thr1716AsnfsTer30
ENST00000682460.1:c.*1547dup	ENSP00000508334.1:n.*1547dup
ENST00000682495.1:c.*1782dup	ENSP00000507166.1:n.*1782dup
ENST00000682669.1:c.5089dup	ENSP00000507782.1:p.Thr1697AsnfsTer30
ENST00000683186.1:c.*2053dup	ENSP00000507268.1:n.*2053dup
ENST00000683496.1:c.5290dup	ENSP00000506968.1:p.Thr1764AsnfsTer30
ENST00000683734.1:c.5290dup	ENSP00000508319.1:p.Thr1764AsnfsTer30
ENST00000683753.1:n.4336dup
ENST00000684038.1:c.*1710dup	ENSP00000507141.1:n.*1710dup
ENST00000684235.1:c.5290dup	ENSP00000508295.1:p.Thr1764AsnfsTer30
ENST00000684676.1:c.5290dup	ENSP00000506948.1:p.Thr1764AsnfsTer30
ENST00000261866.12:c.5290dup MANE Select	ENSP00000261866.7:p.Thr1764AsnfsTer30
ENST00000261866.11:c.5290dup	ENSP00000261866.7:p.Thr1764AsnfsTer30
ENST00000427534.6:c.5290dup	ENSP00000396110.2:p.Thr1764AsnfsTer30
ENST00000535302.6:c.5290dup	ENSP00000445278.2:p.Thr1764AsnfsTer30
ENST00000558319.5:c.5290dup	ENSP00000453599.1:p.Thr1764AsnfsTer30
ENST00000558790.5:n.727dup
ENST00000559511.5:c.138dup
ENST00000559822.1:c.62dup
NM_001160227.1:c.5290dup	NP_001153699.1:p.Thr1764AsnfsTer30
NM_025137.3:c.5290dup	NP_079413.3:p.Thr1764AsnfsTer30
XM_005254695.3:c.5032dup	XP_005254752.1:p.Thr1678AsnfsTer30
XM_006720700.1:c.5146dup	XP_006720763.1:p.Thr1716AsnfsTer30
XM_017022634.1:c.5290dup	XP_016878123.1:p.Thr1764AsnfsTer30
XM_017022636.1:c.2167dup	XP_016878125.1:p.Thr723AsnfsTer30
XR_931917.2:n.5344dup
NM_025137.4:c.5290dup MANE Select	NP_079413.3:p.Thr1764AsnfsTer30
NM_001160227.2:c.5290dup	NP_001153699.1:p.Thr1764AsnfsTer30