Canonical Allele Identifier: CA16610746
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 409033
ClinVar RCV Id: RCV000477009
dbSNP Id: rs1060502229

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064241del , CM000664.2:g.32064241del GRCh38
NC_000002.11:g.32289310del , CM000664.1:g.32289310del GRCh37
NC_000002.10:g.32142814del NCBI36
NG_008730.1:g.5631del , LRG_714:g.5631del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.410del ENSP00000515816.1:p.Glu137GlyfsTer?
ENST00000315285.9:c.410del MANE Select ENSP00000320885.3:p.Glu137GlyfsTer24
ENST00000621856.2:c.410del ENSP00000482496.2:p.Glu137GlyfsTer23
ENST00000642281.1:c.294del
ENST00000642455.1:c.410del ENSP00000493827.1:p.Glu137GlyfsTer23
ENST00000642751.1:c.280del
ENST00000642999.1:c.152del ENSP00000496589.1:p.Glu51GlyfsTer24
ENST00000644408.1:c.286del
ENST00000644954.1:c.152del ENSP00000494312.1:p.Glu51GlyfsTer24
ENST00000645400.1:c.251del ENSP00000496306.1:p.Glu84GlyfsTer3
ENST00000645671.1:c.31del
ENST00000646082.1:c.244del
ENST00000646571.1:c.410del ENSP00000495015.1:p.Glu137GlyfsTer24
ENST00000315285.7:c.410del ENSP00000320885.3:p.Glu137GlyfsTer24
ENST00000345662.5:c.410del ENSP00000340817.1:p.Glu137GlyfsTer24
ENST00000615843.4:c.410del ENSP00000480893.1:p.Glu137GlyfsTer24
ENST00000621856.1:c.152del ENSP00000482496.1:p.Glu51GlyfsTer24
NM_014946.3:c.410del , LRG_714t1:c.410del NP_055761.2:p.Glu137GlyfsTer24
NM_199436.1:c.410del NP_955468.1:p.Glu137GlyfsTer24
XM_005264516.3:c.410del XP_005264573.1:p.Glu137GlyfsTer23
XM_011533067.1:c.410del XP_011531369.1:p.Glu137GlyfsTer24
NM_001363823.1:c.410del NP_001350752.1:p.Glu137GlyfsTer23
NM_001363875.1:c.410del NP_001350804.1:p.Glu137GlyfsTer23
XM_005264516.5:c.410del XP_005264573.1:p.Glu137GlyfsTer23
XM_011533067.2:c.410del XP_011531369.1:p.Glu137GlyfsTer24
XM_017004778.2:c.410del XP_016860267.1:p.Glu137GlyfsTer24
NM_001363823.2:c.410del NP_001350752.1:p.Glu137GlyfsTer23
NM_001363875.2:c.410del NP_001350804.1:p.Glu137GlyfsTer23
NM_001377959.1:c.410del NP_001364888.1:p.Glu137GlyfsTer24
NM_014946.4:c.410del MANE Select NP_055761.2:p.Glu137GlyfsTer24
NM_199436.2:c.410del NP_955468.1:p.Glu137GlyfsTer24