Canonical Allele Identifier: CA915943721
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 805505
ClinVar RCV Id: RCV000993059
dbSNP Id: rs1573142475

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128408del , CM000664.2:g.32128408del GRCh38
NC_000002.11:g.32353477del , CM000664.1:g.32353477del GRCh37
NC_000002.10:g.32206981del NCBI36
NG_008730.1:g.69798del , LRG_714:g.69798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*834del
ENST00000315285.9:c.1174del
ENST00000621856.2:c.1171del
ENST00000642281.1:c.983-8155del
ENST00000642455.1:c.1075del
ENST00000642751.1:c.948del
ENST00000642999.1:c.916del
ENST00000643327.1:c.333del
ENST00000643334.1:c.754del
ENST00000644408.1:c.1050del
ENST00000644954.1:c.820del
ENST00000645159.1:n.1911del
ENST00000645550.1:n.387del
ENST00000645671.1:c.624del
ENST00000645730.1:c.521del
ENST00000646082.1:c.820del
ENST00000646571.1:c.1078del
ENST00000647007.1:n.866del
ENST00000647133.1:c.674del
ENST00000315285.7:c.1174del
ENST00000345662.5:c.1078del
ENST00000615843.4:c.1174del
ENST00000621856.1:c.916del
NM_014946.3:c.1174del , LRG_714t1:c.1174del
NM_199436.1:c.1078del
XM_005264516.3:c.1171del
XM_011533067.1:c.1174del
NM_001363823.1:c.1171del
NM_001363875.1:c.1075del
XM_005264516.5:c.1171del
XM_011533067.2:c.1174del
XM_017004778.2:c.1078del
NM_001363823.2:c.1171del
NM_001363875.2:c.1075del
NM_001377959.1:c.1078del
NM_014946.4:c.1174del
NM_199436.2:c.1078del