Canonical Allele Identifier: CA2580066405

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2018978
• ClinVar RCV Id: RCV002870950

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136608del , CM000664.2:g.32136608del	GRCh38
NC_000002.11:g.32361677del , CM000664.1:g.32361677del	GRCh37
NC_000002.10:g.32215181del	NCBI36
NG_008730.1:g.77998del , LRG_714:g.77998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*951del	ENSP00000515816.1:n.*951del
ENST00000315285.9:c.1291del MANE Select	ENSP00000320885.3:p.Arg431GlufsTer7
ENST00000621856.2:c.1288del	ENSP00000482496.2:p.Arg430GlufsTer7
ENST00000642281.1:c.1028del
ENST00000642455.1:c.1192del	ENSP00000493827.1:p.Arg398GlufsTer7
ENST00000642751.1:c.1065del
ENST00000642999.1:c.1033del	ENSP00000496589.1:p.Arg345GlufsTer7
ENST00000643327.1:c.450del
ENST00000643334.1:c.871del
ENST00000644408.1:c.1167del
ENST00000644954.1:c.937del	ENSP00000494312.1:p.Arg313GlufsTer7
ENST00000645159.1:n.2028del
ENST00000645671.1:c.741del
ENST00000645730.1:c.593-501del
ENST00000646082.1:c.937del
ENST00000646571.1:c.1195del	ENSP00000495015.1:p.Arg399GlufsTer7
ENST00000647007.1:n.983del
ENST00000647133.1:c.791del
ENST00000315285.7:c.1291del	ENSP00000320885.3:p.Arg431GlufsTer7
ENST00000345662.5:c.1195del	ENSP00000340817.1:p.Arg399GlufsTer7
ENST00000615843.4:c.1291del	ENSP00000480893.1:p.Arg431GlufsTer7
ENST00000621856.1:c.1033del	ENSP00000482496.1:p.Arg345GlufsTer7
NM_014946.3:c.1291del , LRG_714t1:c.1291del	NP_055761.2:p.Arg431GlufsTer7
NM_199436.1:c.1195del	NP_955468.1:p.Arg399GlufsTer7
XM_005264516.3:c.1288del	XP_005264573.1:p.Arg430GlufsTer7
XM_011533067.1:c.1291del	XP_011531369.1:p.Arg431GlufsTer7
NM_001363823.1:c.1288del	NP_001350752.1:p.Arg430GlufsTer7
NM_001363875.1:c.1192del	NP_001350804.1:p.Arg398GlufsTer7
XM_005264516.5:c.1288del	XP_005264573.1:p.Arg430GlufsTer7
XM_011533067.2:c.1291del	XP_011531369.1:p.Arg431GlufsTer7
XM_017004778.2:c.1195del	XP_016860267.1:p.Arg399GlufsTer7
NM_001363823.2:c.1288del	NP_001350752.1:p.Arg430GlufsTer7
NM_001363875.2:c.1192del	NP_001350804.1:p.Arg398GlufsTer7
NM_001377959.1:c.1195del	NP_001364888.1:p.Arg399GlufsTer7
NM_014946.4:c.1291del MANE Select	NP_055761.2:p.Arg431GlufsTer7
NM_199436.2:c.1195del	NP_955468.1:p.Arg399GlufsTer7