Canonical Allele Identifier: CA344307
Gene: SPG11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44633503_44633506del , CM000677.2:g.44633503_44633506del GRCh38
NC_000015.9:g.44925701_44925704del , CM000677.1:g.44925701_44925704del GRCh37
NC_000015.8:g.42712993_42712996del NCBI36
NG_008885.1:g.35177_35180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559511.6:c.1735+3_1735+6del
ENST00000682065.1:c.1735+3_1735+6del
ENST00000682410.1:n.1764+3_1764+6del
ENST00000682460.1:c.1735+3_1735+6del
ENST00000682495.1:c.1735+3_1735+6del
ENST00000682648.1:n.1680+3_1680+6del
ENST00000682669.1:c.1735+3_1735+6del
ENST00000682788.1:c.1735+3_1735+6del
ENST00000682877.1:n.1766+3_1766+6del
ENST00000682915.1:c.1735+3_1735+6del
ENST00000683121.1:c.1735+3_1735+6del
ENST00000683186.1:c.1735+3_1735+6del
ENST00000683255.1:c.1735+3_1735+6del
ENST00000683496.1:c.1735+3_1735+6del
ENST00000683573.1:c.1735+3_1735+6del
ENST00000683734.1:c.1735+3_1735+6del
ENST00000683753.1:n.859+3_859+6del
ENST00000684038.1:c.1477+3_1477+6del
ENST00000684235.1:c.1735+3_1735+6del
ENST00000684490.1:n.1750+3_1750+6del
ENST00000684676.1:c.1735+3_1735+6del
ENST00000261866.12:c.1735+3_1735+6del
ENST00000261866.11:c.1735+3_1735+6del
ENST00000427534.6:c.1735+3_1735+6del
ENST00000535302.6:c.1735+3_1735+6del
ENST00000557866.1:c.436_439del ENSP00000453227.1:p.Lys146GlyfsTer?
ENST00000558319.5:c.1735+3_1735+6del
ENST00000559193.5:c.1735+3_1735+6del
NM_001160227.1:c.1735+3_1735+6del
NM_025137.3:c.1735+3_1735+6del
XM_005254695.3:c.1477+3_1477+6del
XM_006720700.1:c.1735+3_1735+6del
XM_006720701.2:c.1735+3_1735+6del
XM_011522093.1:c.1735+3_1735+6del
XR_931917.1:n.1766+3_1766+6del
XM_006720701.3:c.1735+3_1735+6del
XM_017022634.1:c.1735+3_1735+6del
XM_017022635.2:c.1735+3_1735+6del
XR_001751402.1:n.1766+3_1766+6del
XR_931917.2:n.1766+3_1766+6del
NM_025137.4:c.1735+3_1735+6del
NM_001160227.2:c.1735+3_1735+6del