Canonical Allele Identifier: CA344400

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41368
• ClinVar RCV Id: RCV000034269 ; RCV002345267 ; RCV001847641
• dbSNP Id: rs312262764
• ExAC: 15:44876420 GCT / G
• gnomAD v2: 15-44876420-GCT-G
• gnomAD v3: 15-44584222-GCT-G
• gnomAD v4: 15-44584222-GCT-G
• MyVariant Identifiers: chr15:g.44876423_44876424del (hg19) ; chr15:g.44876421_44876422del (hg19) ; chr15:g.44584225_44584226del (hg38) ; chr15:g.44584223_44584224del (hg38)
• PubMed: PMID:18337587 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584225_44584226del , CM000677.2:g.44584225_44584226del	GRCh38
NC_000015.9:g.44876423_44876424del , CM000677.1:g.44876423_44876424del	GRCh37
NC_000015.8:g.42663715_42663716del	NCBI36
NG_008885.1:g.84455_84456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5456_5457del	ENSP00000453246.2:p.Glu1819AlafsTer10
ENST00000561391.2:n.1684_1685del
ENST00000682065.1:c.5312_5313del	ENSP00000507025.1:p.Glu1771AlafsTer10
ENST00000682460.1:c.*1713_*1714del	ENSP00000508334.1:n.*1713_*1714del
ENST00000682495.1:c.*1948_*1949del	ENSP00000507166.1:n.*1948_*1949del
ENST00000682669.1:c.5255_5256del	ENSP00000507782.1:p.Glu1752AlafsTer10
ENST00000683186.1:c.*2219_*2220del	ENSP00000507268.1:n.*2219_*2220del
ENST00000683496.1:c.5456_5457del	ENSP00000506968.1:p.Glu1819AlafsTer10
ENST00000683734.1:c.5456_5457del	ENSP00000508319.1:p.Glu1819AlafsTer10
ENST00000683753.1:n.4502_4503del
ENST00000684038.1:c.*1876_*1877del	ENSP00000507141.1:n.*1876_*1877del
ENST00000684235.1:c.5456_5457del	ENSP00000508295.1:p.Glu1819AlafsTer10
ENST00000684676.1:c.5456_5457del	ENSP00000506948.1:p.Glu1819AlafsTer10
ENST00000261866.12:c.5456_5457del MANE Select	ENSP00000261866.7:p.Glu1819AlafsTer10
ENST00000261866.11:c.5456_5457del	ENSP00000261866.7:p.Glu1819AlafsTer10
ENST00000427534.6:c.5456_5457del	ENSP00000396110.2:p.Glu1819AlafsTer10
ENST00000535302.6:c.5456_5457del	ENSP00000445278.2:p.Glu1819AlafsTer10
ENST00000558319.5:c.5456_5457del	ENSP00000453599.1:p.Glu1819AlafsTer10
ENST00000559511.5:c.304_305del
ENST00000559822.1:c.228_229del
NM_001160227.1:c.5456_5457del	NP_001153699.1:p.Glu1819AlafsTer10
NM_025137.3:c.5456_5457del	NP_079413.3:p.Glu1819AlafsTer10
XM_005254695.3:c.5198_5199del	XP_005254752.1:p.Glu1733AlafsTer10
XM_006720700.1:c.5312_5313del	XP_006720763.1:p.Glu1771AlafsTer10
XM_017022634.1:c.5456_5457del	XP_016878123.1:p.Glu1819AlafsTer10
XM_017022636.1:c.2333_2334del	XP_016878125.1:p.Glu778AlafsTer10
NM_025137.4:c.5456_5457del MANE Select	NP_079413.3:p.Glu1819AlafsTer10
NM_001160227.2:c.5456_5457del	NP_001153699.1:p.Glu1819AlafsTer10