Canonical Allele Identifier: CA344356

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41325
• ClinVar RCV Id: RCV000034226
• dbSNP Id: rs312262768
• MyVariant Identifiers: chr15:g.44876345_44876346del (hg19) ; chr15:g.44584147_44584148del (hg38)
• PubMed: PMID:18079167 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584147_44584148del , CM000677.2:g.44584147_44584148del	GRCh38
NC_000015.9:g.44876345_44876346del , CM000677.1:g.44876345_44876346del	GRCh37
NC_000015.8:g.42663637_42663638del	NCBI36
NG_008885.1:g.84531_84532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5532_5533del	ENSP00000453246.2:p.Lys1845ValfsTer13
ENST00000561391.2:n.1760_1761del
ENST00000682065.1:c.5388_5389del	ENSP00000507025.1:p.Lys1797ValfsTer13
ENST00000682460.1:c.*1789_*1790del	ENSP00000508334.1:n.*1789_*1790del
ENST00000682495.1:c.*2024_*2025del	ENSP00000507166.1:n.*2024_*2025del
ENST00000682669.1:c.5331_5332del	ENSP00000507782.1:p.Lys1778ValfsTer13
ENST00000683186.1:c.*2295_*2296del	ENSP00000507268.1:n.*2295_*2296del
ENST00000683496.1:c.5532_5533del	ENSP00000506968.1:p.Lys1845ValfsTer13
ENST00000683734.1:c.5532_5533del	ENSP00000508319.1:p.Lys1845ValfsTer13
ENST00000683753.1:n.4578_4579del
ENST00000684038.1:c.*1952_*1953del	ENSP00000507141.1:n.*1952_*1953del
ENST00000684235.1:c.5532_5533del	ENSP00000508295.1:p.Lys1845ValfsTer13
ENST00000684676.1:c.5515+17_5515+18del	ENSP00000506948.1:n.5515+17_5515+18del
ENST00000261866.12:c.5532_5533del MANE Select	ENSP00000261866.7:p.Lys1845ValfsTer13
ENST00000261866.11:c.5532_5533del	ENSP00000261866.7:p.Lys1845ValfsTer13
ENST00000427534.6:c.5532_5533del	ENSP00000396110.2:p.Lys1845ValfsTer13
ENST00000535302.6:c.5532_5533del	ENSP00000445278.2:p.Lys1845ValfsTer13
ENST00000558319.5:c.5532_5533del	ENSP00000453599.1:p.Lys1845ValfsTer13
ENST00000559511.5:c.380_381del
ENST00000559822.1:c.287+17_287+18del
NM_001160227.1:c.5532_5533del	NP_001153699.1:p.Lys1845ValfsTer13
NM_025137.3:c.5532_5533del	NP_079413.3:p.Lys1845ValfsTer13
XM_005254695.3:c.5274_5275del	XP_005254752.1:p.Lys1759ValfsTer13
XM_006720700.1:c.5388_5389del	XP_006720763.1:p.Lys1797ValfsTer13
XM_017022634.1:c.5532_5533del	XP_016878123.1:p.Lys1845ValfsTer13
XM_017022636.1:c.2409_2410del	XP_016878125.1:p.Lys804ValfsTer13
NM_025137.4:c.5532_5533del MANE Select	NP_079413.3:p.Lys1845ValfsTer13
NM_001160227.2:c.5532_5533del	NP_001153699.1:p.Lys1845ValfsTer13