Canonical Allele Identifier: CA490202775

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1295553
• ClinVar RCV Id: RCV001722801
• dbSNP Id: rs397853802
• gnomAD v2: 15-44859547-C-CA
• gnomAD v3: 15-44567349-C-CA
• gnomAD v4: 15-44567349-C-CA
• MyVariant Identifiers: chr15:g.44859549_44859550insA (hg19) ; chr15:g.44859547_44859548insA (hg19) ; chr15:g.44567351_44567352insA (hg38) ; chr15:g.44567349_44567350insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44567367dup , CM000677.2:g.44567367dup	GRCh38
NC_000015.9:g.44859565dup , CM000677.1:g.44859565dup	GRCh37
NC_000015.8:g.42646857dup	NCBI36
NG_008885.1:g.101329dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000558138.2:c.445+74dup	ENSP00000453314.2:n.445+74dup
ENST00000559511.6:c.6277+74dup	ENSP00000453246.2:n.6277+74dup
ENST00000682065.1:c.6610+74dup	ENSP00000507025.1:n.6610+74dup
ENST00000682460.1:c.*3011+74dup	ENSP00000508334.1:n.*3011+74dup
ENST00000682495.1:c.*3246+74dup	ENSP00000507166.1:n.*3246+74dup
ENST00000682669.1:c.6553+74dup	ENSP00000507782.1:n.6553+74dup
ENST00000683186.1:c.*3517+74dup	ENSP00000507268.1:n.*3517+74dup
ENST00000683496.1:c.*396+74dup	ENSP00000506968.1:n.*396+74dup
ENST00000683734.1:c.*704+74dup	ENSP00000508319.1:n.*704+74dup
ENST00000683753.1:n.5800+74dup
ENST00000684038.1:c.*3174+74dup	ENSP00000507141.1:n.*3174+74dup
ENST00000684235.1:c.6754+74dup	ENSP00000508295.1:n.6754+74dup
ENST00000261866.12:c.6754+74dup MANE Select	ENSP00000261866.7:n.6754+74dup
ENST00000261866.11:c.6754+74dup	ENSP00000261866.7:n.6754+74dup
ENST00000427534.6:c.6754+74dup	ENSP00000396110.2:n.6754+74dup
ENST00000535302.6:c.6415+74dup	ENSP00000445278.2:n.6415+74dup
ENST00000558138.1:c.445+74dup	ENSP00000453314.1:n.445+74dup
ENST00000559347.1:n.583+74dup
ENST00000559511.5:c.1125+74dup
ENST00000561268.5:n.518dup
NM_001160227.1:c.6415+74dup	NP_001153699.1:n.6415+74dup
NM_025137.3:c.6754+74dup	NP_079413.3:n.6754+74dup
XM_005254695.3:c.6496+74dup	XP_005254752.1:n.6496+74dup
XM_006720700.1:c.6610+74dup	XP_006720763.1:n.6610+74dup
XM_017022634.1:c.6646+74dup	XP_016878123.1:n.6646+74dup
XM_017022636.1:c.3631+74dup	XP_016878125.1:n.3631+74dup
NM_025137.4:c.6754+74dup MANE Select	NP_079413.3:n.6754+74dup
NM_001160227.2:c.6415+74dup	NP_001153699.1:n.6415+74dup