Canonical Allele Identifier: CA335970
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 216113
ClinVar RCV Id: RCV000195823
dbSNP Id: rs863224515
MyVariant Identifiers: chr2:g.32340825del (hg19) chr2:g.32115756del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32115756del , CM000664.2:g.32115756del GRCh38
NC_000002.11:g.32340825del , CM000664.1:g.32340825del GRCh37
NC_000002.10:g.32194329del NCBI36
NG_008730.1:g.57146del , LRG_714:g.57146del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*585del ENSP00000515816.1:n.*585del
ENST00000315285.9:c.925del MANE Select ENSP00000320885.3:p.Arg309ValfsTer6
ENST00000621856.2:c.922del ENSP00000482496.2:p.Arg308ValfsTer6
ENST00000642281.1:c.809del
ENST00000642455.1:c.826del ENSP00000493827.1:p.Arg276ValfsTer6
ENST00000642751.1:c.699del
ENST00000642999.1:c.667del ENSP00000496589.1:p.Arg223ValfsTer6
ENST00000643327.1:c.84del
ENST00000643334.1:c.505del
ENST00000644408.1:c.801del
ENST00000644954.1:c.571del ENSP00000494312.1:p.Arg191ValfsTer6
ENST00000645671.1:c.375del
ENST00000645730.1:c.272del
ENST00000646082.1:c.571del
ENST00000646571.1:c.829del ENSP00000495015.1:p.Arg277ValfsTer6
ENST00000647007.1:n.617del
ENST00000647133.1:c.500del
ENST00000315285.7:c.925del ENSP00000320885.3:p.Arg309ValfsTer6
ENST00000345662.5:c.829del ENSP00000340817.1:p.Arg277ValfsTer6
ENST00000615843.4:c.925del ENSP00000480893.1:p.Arg309ValfsTer6
ENST00000621856.1:c.667del ENSP00000482496.1:p.Arg223ValfsTer6
NM_014946.3:c.925del , LRG_714t1:c.925del NP_055761.2:p.Arg309ValfsTer6
NM_199436.1:c.829del NP_955468.1:p.Arg277ValfsTer6
XM_005264516.3:c.922del XP_005264573.1:p.Arg308ValfsTer6
XM_011533067.1:c.925del XP_011531369.1:p.Arg309ValfsTer6
NM_001363823.1:c.922del NP_001350752.1:p.Arg308ValfsTer6
NM_001363875.1:c.826del NP_001350804.1:p.Arg276ValfsTer6
XM_005264516.5:c.922del XP_005264573.1:p.Arg308ValfsTer6
XM_011533067.2:c.925del XP_011531369.1:p.Arg309ValfsTer6
XM_017004778.2:c.829del XP_016860267.1:p.Arg277ValfsTer6
NM_001363823.2:c.922del NP_001350752.1:p.Arg308ValfsTer6
NM_001363875.2:c.826del NP_001350804.1:p.Arg276ValfsTer6
NM_001377959.1:c.829del NP_001364888.1:p.Arg277ValfsTer6
NM_014946.4:c.925del MANE Select NP_055761.2:p.Arg309ValfsTer6
NM_199436.2:c.829del NP_955468.1:p.Arg277ValfsTer6
Search 100 bp 5'
Search 100 bp 3'