Canonical Allele Identifier: CA344339

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41311
• ClinVar RCV Id: RCV000034212
• dbSNP Id: rs312262757
• gnomAD v4: 15-44598781-G-GT
• MyVariant Identifiers: chr15:g.44890979_44890980insT (hg19) ; chr15:g.44598781_44598782insT (hg38)
• PubMed: PMID:19105190 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598782dup , CM000677.2:g.44598782dup	GRCh38
NC_000015.9:g.44890980dup , CM000677.1:g.44890980dup	GRCh37
NC_000015.8:g.42678272dup	NCBI36
NG_008885.1:g.69897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3741dup	ENSP00000453246.2:p.Pro1248ThrfsTer17
ENST00000682065.1:c.3741dup	ENSP00000507025.1:p.Pro1248ThrfsTer17
ENST00000682460.1:c.*161dup	ENSP00000508334.1:n.*161dup
ENST00000682495.1:c.*233dup	ENSP00000507166.1:n.*233dup
ENST00000682669.1:c.3540dup	ENSP00000507782.1:p.Pro1181ThrfsTer17
ENST00000682788.1:c.3741dup	ENSP00000508089.1:p.Pro1248ThrfsTer17
ENST00000682915.1:c.3834dup	ENSP00000507493.1:n.3834dup
ENST00000683121.1:c.3741dup	ENSP00000507557.1:p.Pro1248ThrfsTer17
ENST00000683186.1:c.*504dup	ENSP00000507268.1:n.*504dup
ENST00000683496.1:c.3741dup	ENSP00000506968.1:p.Pro1248ThrfsTer17
ENST00000683734.1:c.3741dup	ENSP00000508319.1:p.Pro1248ThrfsTer17
ENST00000683753.1:n.2787dup
ENST00000683838.1:n.815dup
ENST00000684038.1:c.*161dup	ENSP00000507141.1:n.*161dup
ENST00000684235.1:c.3741dup	ENSP00000508295.1:p.Pro1248ThrfsTer17
ENST00000684676.1:c.3741dup	ENSP00000506948.1:p.Pro1248ThrfsTer17
ENST00000261866.12:c.3741dup MANE Select	ENSP00000261866.7:p.Pro1248ThrfsTer17
ENST00000261866.11:c.3741dup	ENSP00000261866.7:p.Pro1248ThrfsTer17
ENST00000427534.6:c.3741dup	ENSP00000396110.2:p.Pro1248ThrfsTer17
ENST00000535302.6:c.3741dup	ENSP00000445278.2:p.Pro1248ThrfsTer17
ENST00000558093.1:n.355dup
ENST00000558319.5:c.3741dup	ENSP00000453599.1:p.Pro1248ThrfsTer17
NM_001160227.1:c.3741dup	NP_001153699.1:p.Pro1248ThrfsTer17
NM_025137.3:c.3741dup	NP_079413.3:p.Pro1248ThrfsTer17
XM_005254695.3:c.3483dup	XP_005254752.1:p.Pro1162ThrfsTer17
XM_006720700.1:c.3741dup	XP_006720763.1:p.Pro1248ThrfsTer17
XM_006720701.2:c.3741dup	XP_006720764.1:p.Pro1248ThrfsTer17
XM_011522093.1:c.3687-409dup	XP_011520395.1:n.3687-409dup
XR_931917.1:n.3772dup
XM_006720701.3:c.3741dup	XP_006720764.1:p.Pro1248ThrfsTer17
XM_017022634.1:c.3741dup	XP_016878123.1:p.Pro1248ThrfsTer17
XM_017022635.2:c.3741dup	XP_016878124.1:p.Pro1248ThrfsTer17
XM_017022636.1:c.618dup	XP_016878125.1:p.Pro207ThrfsTer17
XR_001751402.1:n.3718-409dup
XR_931917.2:n.3772dup
NM_025137.4:c.3741dup MANE Select	NP_079413.3:p.Pro1248ThrfsTer17
NM_001160227.2:c.3741dup	NP_001153699.1:p.Pro1248ThrfsTer17