Canonical Allele Identifier: CA348291
Gene: SPAST HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 219826
ClinVar RCV Id: RCV000204013
dbSNP Id: rs864622268

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
NM_014946.3:c.1437_1438del , LRG_714t1:c.1437_1438del NP_055761.2:p.Arg479SerfsTer8
NM_199436.1:c.1341_1342del VV 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 VV NP_001350752.1:p.Arg478SerfsTer8
NM_001363875.1:c.1338_1339del VV NP_001350804.1:p.Arg446SerfsTer8
XM_005264516.5:n.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
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