Canonical Allele Identifier: CA270080363

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2704070
• ClinVar RCV Id: RCV003496202
• dbSNP Id: rs933508115
• MyVariant Identifiers: chr15:g.44876626_44876629del (hg19) ; chr15:g.44584428_44584431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584431_44584434del , CM000677.2:g.44584431_44584434del	GRCh38
NC_000015.9:g.44876629_44876632del , CM000677.1:g.44876629_44876632del	GRCh37
NC_000015.8:g.42663921_42663924del	NCBI36
NG_008885.1:g.84248_84251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5249_5252del	ENSP00000453246.2:p.Ser1750PhefsTer?
ENST00000561391.2:n.1477_1480del
ENST00000682065.1:c.5122-17_5122-14del	ENSP00000507025.1:n.5122-17_5122-14del
ENST00000682460.1:c.*1506_*1509del	ENSP00000508334.1:n.*1506_*1509del
ENST00000682495.1:c.*1741_*1744del	ENSP00000507166.1:n.*1741_*1744del
ENST00000682669.1:c.5048_5051del	ENSP00000507782.1:p.Ser1683PhefsTer?
ENST00000683186.1:c.*2012_*2015del	ENSP00000507268.1:n.*2012_*2015del
ENST00000683496.1:c.5249_5252del	ENSP00000506968.1:p.Ser1750PhefsTer?
ENST00000683734.1:c.5249_5252del	ENSP00000508319.1:p.Ser1750PhefsTer?
ENST00000683753.1:n.4295_4298del
ENST00000684038.1:c.*1669_*1672del	ENSP00000507141.1:n.*1669_*1672del
ENST00000684235.1:c.5249_5252del	ENSP00000508295.1:p.Ser1750PhefsTer?
ENST00000684676.1:c.5249_5252del	ENSP00000506948.1:p.Ser1750PhefsTer?
ENST00000261866.12:c.5249_5252del MANE Select	ENSP00000261866.7:p.Ser1750PhefsTer?
ENST00000261866.11:c.5249_5252del	ENSP00000261866.7:p.Ser1750PhefsTer?
ENST00000427534.6:c.5249_5252del	ENSP00000396110.2:p.Ser1750PhefsTer?
ENST00000535302.6:c.5249_5252del	ENSP00000445278.2:p.Ser1750PhefsTer?
ENST00000558319.5:c.5249_5252del	ENSP00000453599.1:p.Ser1750PhefsTer?
ENST00000558790.5:n.686_689del
ENST00000559511.5:c.97_100del
ENST00000559822.1:c.21_24del
NM_001160227.1:c.5249_5252del	NP_001153699.1:p.Ser1750PhefsTer?
NM_025137.3:c.5249_5252del	NP_079413.3:p.Ser1750PhefsTer?
XM_005254695.3:c.4991_4994del	XP_005254752.1:p.Ser1664PhefsTer?
XM_006720700.1:c.5122-17_5122-14del	XP_006720763.1:n.5122-17_5122-14del
XM_017022634.1:c.5249_5252del	XP_016878123.1:p.Ser1750PhefsTer?
XM_017022636.1:c.2126_2129del	XP_016878125.1:p.Ser709PhefsTer?
XR_931917.2:n.5303_5306del
NM_025137.4:c.5249_5252del MANE Select	NP_079413.3:p.Ser1750PhefsTer?
NM_001160227.2:c.5249_5252del	NP_001153699.1:p.Ser1750PhefsTer?