Canonical Allele Identifier: CA713068791

Gene: SPG11

Linked Data

• ClinVar Variation Id: 1990680
• ClinVar RCV Id: RCV002771412
• dbSNP Id: rs1169800424
• gnomAD v3: 15-44584344-GC-G
• gnomAD v4: 15-44584344-GC-G
• MyVariant Identifiers: chr15:g.44876543del (hg19) ; chr15:g.44584345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584346del , CM000677.2:g.44584346del	GRCh38
NC_000015.9:g.44876544del , CM000677.1:g.44876544del	GRCh37
NC_000015.8:g.42663836del	NCBI36
NG_008885.1:g.84334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5335del	ENSP00000453246.2:p.Ala1779GlnfsTer?
ENST00000561391.2:n.1563del
ENST00000682065.1:c.5191del	ENSP00000507025.1:p.Ala1731GlnfsTer?
ENST00000682460.1:c.*1592del	ENSP00000508334.1:n.*1592del
ENST00000682495.1:c.*1827del	ENSP00000507166.1:n.*1827del
ENST00000682669.1:c.5134del	ENSP00000507782.1:p.Ala1712GlnfsTer?
ENST00000683186.1:c.*2098del	ENSP00000507268.1:n.*2098del
ENST00000683496.1:c.5335del	ENSP00000506968.1:p.Ala1779GlnfsTer?
ENST00000683734.1:c.5335del	ENSP00000508319.1:p.Ala1779GlnfsTer?
ENST00000683753.1:n.4381del
ENST00000684038.1:c.*1755del	ENSP00000507141.1:n.*1755del
ENST00000684235.1:c.5335del	ENSP00000508295.1:p.Ala1779GlnfsTer?
ENST00000684676.1:c.5335del	ENSP00000506948.1:p.Ala1779GlnfsTer?
ENST00000261866.12:c.5335del MANE Select	ENSP00000261866.7:p.Ala1779GlnfsTer?
ENST00000261866.11:c.5335del	ENSP00000261866.7:p.Ala1779GlnfsTer?
ENST00000427534.6:c.5335del	ENSP00000396110.2:p.Ala1779GlnfsTer?
ENST00000535302.6:c.5335del	ENSP00000445278.2:p.Ala1779GlnfsTer?
ENST00000558319.5:c.5335del	ENSP00000453599.1:p.Ala1779GlnfsTer?
ENST00000558790.5:n.772del
ENST00000559511.5:c.183del
ENST00000559822.1:c.107del
NM_001160227.1:c.5335del	NP_001153699.1:p.Ala1779GlnfsTer?
NM_025137.3:c.5335del	NP_079413.3:p.Ala1779GlnfsTer?
XM_005254695.3:c.5077del	XP_005254752.1:p.Ala1693GlnfsTer?
XM_006720700.1:c.5191del	XP_006720763.1:p.Ala1731GlnfsTer?
XM_017022634.1:c.5335del	XP_016878123.1:p.Ala1779GlnfsTer?
XM_017022636.1:c.2212del	XP_016878125.1:p.Ala738GlnfsTer?
XR_931917.2:n.5389del
NM_025137.4:c.5335del MANE Select	NP_079413.3:p.Ala1779GlnfsTer?
NM_001160227.2:c.5335del	NP_001153699.1:p.Ala1779GlnfsTer?