Canonical Allele Identifier: CA16603261
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 377083
ClinVar RCV Id: RCV000423551
dbSNP Id: rs1057520127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128443del , CM000664.2:g.32128443del GRCh38
NC_000002.11:g.32353512del , CM000664.1:g.32353512del GRCh37
NC_000002.10:g.32207016del NCBI36
NG_008730.1:g.69833del , LRG_714:g.69833del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*869del ENSP00000515816.1:n.*869del
ENST00000315285.9:c.1209del MANE Select ENSP00000320885.3:p.Phe404LeufsTer3
ENST00000621856.2:c.1206del ENSP00000482496.2:p.Phe403LeufsTer3
ENST00000642281.1:c.983-8120del
ENST00000642455.1:c.1110del ENSP00000493827.1:p.Phe371LeufsTer3
ENST00000642751.1:c.983del
ENST00000642999.1:c.951del ENSP00000496589.1:p.Phe318LeufsTer3
ENST00000643327.1:c.368del
ENST00000643334.1:c.789del
ENST00000644408.1:c.1085del
ENST00000644954.1:c.855del ENSP00000494312.1:p.Phe286LeufsTer3
ENST00000645159.1:n.1946del
ENST00000645550.1:n.422del
ENST00000645671.1:c.659del
ENST00000645730.1:c.556del
ENST00000646082.1:c.855del
ENST00000646571.1:c.1113del ENSP00000495015.1:p.Phe372LeufsTer3
ENST00000647007.1:n.901del
ENST00000647133.1:c.709del
ENST00000315285.7:c.1209del ENSP00000320885.3:p.Phe404LeufsTer3
ENST00000345662.5:c.1113del ENSP00000340817.1:p.Phe372LeufsTer3
ENST00000615843.4:c.1209del ENSP00000480893.1:p.Phe404LeufsTer3
ENST00000621856.1:c.951del ENSP00000482496.1:p.Phe318LeufsTer3
NM_014946.3:c.1209del , LRG_714t1:c.1209del NP_055761.2:p.Phe404LeufsTer3
NM_199436.1:c.1113del NP_955468.1:p.Phe372LeufsTer3
XM_005264516.3:c.1206del XP_005264573.1:p.Phe403LeufsTer3
XM_011533067.1:c.1209del XP_011531369.1:p.Phe404LeufsTer3
NM_001363823.1:c.1206del NP_001350752.1:p.Phe403LeufsTer3
NM_001363875.1:c.1110del NP_001350804.1:p.Phe371LeufsTer3
XM_005264516.5:c.1206del XP_005264573.1:p.Phe403LeufsTer3
XM_011533067.2:c.1209del XP_011531369.1:p.Phe404LeufsTer3
XM_017004778.2:c.1113del XP_016860267.1:p.Phe372LeufsTer3
NM_001363823.2:c.1206del NP_001350752.1:p.Phe403LeufsTer3
NM_001363875.2:c.1110del NP_001350804.1:p.Phe371LeufsTer3
NM_001377959.1:c.1113del NP_001364888.1:p.Phe372LeufsTer3
NM_014946.4:c.1209del MANE Select NP_055761.2:p.Phe404LeufsTer3
NM_199436.2:c.1113del NP_955468.1:p.Phe372LeufsTer3