Canonical Allele Identifier: CA348291
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 219826
ClinVar RCV Id: RCV000204013
dbSNP Id: rs864622268
MyVariant Identifiers: chr2:g.32362201_32362202del (hg19) chr2:g.32137132_32137133del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137132_32137133del , CM000664.2:g.32137132_32137133del GRCh38
NC_000002.11:g.32362201_32362202del , CM000664.1:g.32362201_32362202del GRCh37
NC_000002.10:g.32215705_32215706del NCBI36
NG_008730.1:g.78522_78523del , LRG_714:g.78522_78523del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1097_*1098del ENSP00000515816.1:n.*1097_*1098del
ENST00000315285.9:c.1437_1438del MANE Select ENSP00000320885.3:p.Arg479SerfsTer8
ENST00000621856.2:c.1434_1435del ENSP00000482496.2:p.Arg478SerfsTer8
ENST00000642281.1:c.1174_1175del
ENST00000642455.1:c.1338_1339del ENSP00000493827.1:p.Arg446SerfsTer8
ENST00000642751.1:c.1211_1212del
ENST00000642999.1:c.1179_1180del ENSP00000496589.1:p.Arg393SerfsTer8
ENST00000643327.1:c.504_505del
ENST00000643334.1:c.1017_1018del
ENST00000644408.1:c.1313_1314del
ENST00000644954.1:c.1083_1084del ENSP00000494312.1:p.Arg361SerfsTer8
ENST00000645159.1:n.2174_2175del
ENST00000645671.1:c.887_888del
ENST00000645730.1:c.616_617del
ENST00000646082.1:c.1083_1084del
ENST00000646571.1:c.1341_1342del ENSP00000495015.1:p.Arg447SerfsTer8
ENST00000647007.1:n.1129_1130del
ENST00000647133.1:c.937_938del
ENST00000315285.7:c.1437_1438del ENSP00000320885.3:p.Arg479SerfsTer8
ENST00000345662.5:c.1341_1342del ENSP00000340817.1:p.Arg447SerfsTer8
ENST00000615843.4:c.1437_1438del ENSP00000480893.1:p.Arg479SerfsTer8
ENST00000621856.1:c.1179_1180del ENSP00000482496.1:p.Arg393SerfsTer8
NM_014946.3:c.1437_1438del , LRG_714t1:c.1437_1438del NP_055761.2:p.Arg479SerfsTer8
NM_199436.1:c.1341_1342del NP_955468.1:p.Arg447SerfsTer8
XM_005264516.3:c.1434_1435del XP_005264573.1:p.Arg478SerfsTer8
XM_011533067.1:c.1437_1438del XP_011531369.1:p.Arg479SerfsTer8
NM_001363823.1:c.1434_1435del NP_001350752.1:p.Arg478SerfsTer8
NM_001363875.1:c.1338_1339del NP_001350804.1:p.Arg446SerfsTer8
XM_005264516.5:c.1434_1435del XP_005264573.1:p.Arg478SerfsTer8
XM_011533067.2:c.1437_1438del XP_011531369.1:p.Arg479SerfsTer8
XM_017004778.2:c.1341_1342del XP_016860267.1:p.Arg447SerfsTer8
NM_001363823.2:c.1434_1435del NP_001350752.1:p.Arg478SerfsTer8
NM_001363875.2:c.1338_1339del NP_001350804.1:p.Arg446SerfsTer8
NM_001377959.1:c.1341_1342del NP_001364888.1:p.Arg447SerfsTer8
NM_014946.4:c.1437_1438del MANE Select NP_055761.2:p.Arg479SerfsTer8
NM_199436.2:c.1341_1342del NP_955468.1:p.Arg447SerfsTer8
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