Canonical Allele Identifier: CA344340

Gene: SPG11

Linked Data

• ClinVar Variation Id: 41312
• ClinVar RCV Id: RCV000034213
• dbSNP Id: rs312262713
• MyVariant Identifiers: chr15:g.44952674del (hg19) ; chr15:g.44660476del (hg38)
• PubMed: PMID:18717728 ; PMID:20301389

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44660476del , CM000677.2:g.44660476del	GRCh38
NC_000015.9:g.44952674del , CM000677.1:g.44952674del	GRCh37
NC_000015.8:g.42739966del	NCBI36
NG_008885.1:g.8203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.398del	ENSP00000453246.2:p.Cys133LeufsTer22
ENST00000682065.1:c.398del	ENSP00000507025.1:p.Cys133LeufsTer22
ENST00000682410.1:n.427del
ENST00000682460.1:c.398del	ENSP00000508334.1:p.Cys133LeufsTer22
ENST00000682495.1:c.398del	ENSP00000507166.1:p.Cys133LeufsTer22
ENST00000682648.1:n.343del
ENST00000682669.1:c.398del	ENSP00000507782.1:p.Cys133LeufsTer22
ENST00000682788.1:c.398del	ENSP00000508089.1:p.Cys133LeufsTer22
ENST00000682877.1:n.429del
ENST00000682915.1:c.398del	ENSP00000507493.1:p.Cys133LeufsTer22
ENST00000683121.1:c.398del	ENSP00000507557.1:p.Cys133LeufsTer22
ENST00000683186.1:c.398del	ENSP00000507268.1:p.Cys133LeufsTer22
ENST00000683255.1:c.398del	ENSP00000508340.1:p.Cys133LeufsTer22
ENST00000683496.1:c.398del	ENSP00000506968.1:p.Cys133LeufsTer22
ENST00000683573.1:c.398del	ENSP00000508031.1:p.Cys133LeufsTer22
ENST00000683734.1:c.398del	ENSP00000508319.1:p.Cys133LeufsTer22
ENST00000684038.1:c.398del	ENSP00000507141.1:p.Cys133LeufsTer20
ENST00000684235.1:c.398del	ENSP00000508295.1:p.Cys133LeufsTer22
ENST00000684490.1:n.413del
ENST00000684676.1:c.398del	ENSP00000506948.1:p.Cys133LeufsTer22
ENST00000261866.12:c.398del MANE Select	ENSP00000261866.7:p.Cys133LeufsTer22
ENST00000261866.11:c.398del	ENSP00000261866.7:p.Cys133LeufsTer22
ENST00000427534.6:c.398del	ENSP00000396110.2:p.Cys133LeufsTer22
ENST00000535302.6:c.398del	ENSP00000445278.2:p.Cys133LeufsTer22
ENST00000558319.5:c.398del	ENSP00000453599.1:p.Cys133LeufsTer22
ENST00000559193.5:c.398del	ENSP00000453848.1:p.Cys133LeufsTer22
NM_001160227.1:c.398del	NP_001153699.1:p.Cys133LeufsTer22
NM_025137.3:c.398del	NP_079413.3:p.Cys133LeufsTer22
XM_005254695.3:c.398del	XP_005254752.1:p.Cys133LeufsTer20
XM_006720700.1:c.398del	XP_006720763.1:p.Cys133LeufsTer22
XM_006720701.2:c.398del	XP_006720764.1:p.Cys133LeufsTer22
XM_011522093.1:c.398del	XP_011520395.1:p.Cys133LeufsTer22
XR_931917.1:n.429del
XM_006720701.3:c.398del	XP_006720764.1:p.Cys133LeufsTer22
XM_017022634.1:c.398del	XP_016878123.1:p.Cys133LeufsTer22
XM_017022635.2:c.398del	XP_016878124.1:p.Cys133LeufsTer22
XR_001751402.1:n.429del
XR_931917.2:n.429del
NM_025137.4:c.398del MANE Select	NP_079413.3:p.Cys133LeufsTer22
NM_001160227.2:c.398del	NP_001153699.1:p.Cys133LeufsTer22