Canonical Allele Identifier: CA2697554452

Gene: SPG11

Linked Data

• ClinVar Variation Id: 2746280
• ClinVar RCV Id: RCV003495062

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44598836_44598837delinsTA , CM000677.2:g.44598836_44598837delinsTA	GRCh38
NC_000015.9:g.44891034_44891035delinsTA , CM000677.1:g.44891034_44891035delinsTA	GRCh37
NC_000015.8:g.42678326_42678327delinsTA	NCBI36
NG_008885.1:g.69842_69843delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.3687-1_3687delinsTA
ENST00000682065.1:c.3687-1_3687delinsTA
ENST00000682460.1:c.*107-1_*107delinsTA
ENST00000682495.1:c.*179-1_*179delinsTA
ENST00000682669.1:c.3486-1_3486delinsTA
ENST00000682788.1:c.3687-1_3687delinsTA
ENST00000682915.1:c.3780-1_3780delinsTA
ENST00000683121.1:c.3687-1_3687delinsTA
ENST00000683186.1:c.*450-1_*450delinsTA
ENST00000683496.1:c.3687-1_3687delinsTA
ENST00000683734.1:c.3687-1_3687delinsTA
ENST00000683753.1:n.2733-1_2733delinsTA
ENST00000683838.1:n.761-1_761delinsTA
ENST00000684038.1:c.*107-1_*107delinsTA
ENST00000684235.1:c.3687-1_3687delinsTA
ENST00000684676.1:c.3687-1_3687delinsTA
ENST00000261866.12:c.3687-1_3687delinsTA
ENST00000261866.11:c.3687-1_3687delinsTA
ENST00000427534.6:c.3687-1_3687delinsTA
ENST00000535302.6:c.3687-1_3687delinsTA
ENST00000558093.1:n.301-1_301delinsTA
ENST00000558319.5:c.3687-1_3687delinsTA
NM_001160227.1:c.3687-1_3687delinsTA
NM_025137.3:c.3687-1_3687delinsTA
XM_005254695.3:c.3429-1_3429delinsTA
XM_006720700.1:c.3687-1_3687delinsTA
XM_006720701.2:c.3687-1_3687delinsTA
XM_011522093.1:c.3687-464_3687-463delinsTA	XP_011520395.1:n.3687-464_3687-463delinsTA
XR_931917.1:n.3718-1_3718delinsTA
XM_006720701.3:c.3687-1_3687delinsTA
XM_017022634.1:c.3687-1_3687delinsTA
XM_017022635.2:c.3687-1_3687delinsTA
XM_017022636.1:c.564-1_564delinsTA
XR_001751402.1:n.3718-464_3718-463delinsTA
XR_931917.2:n.3718-1_3718delinsTA
NM_025137.4:c.3687-1_3687delinsTA
NM_001160227.2:c.3687-1_3687delinsTA