Canonical Allele Identifier: CA339674

Gene: SPAST

Linked Data

• ClinVar Variation Id: 219088
• ClinVar RCV Id: RCV000203457
• MyVariant Identifiers: chr2:g.32350954_32360289del (hg19) ; chr2:g.32125886_32135221del (hg38)
• PubMed: PMID:25065914

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32125886_32135221del , CM000664.2:g.32125886_32135221del	GRCh38
NC_000002.11:g.32350955_32360290del , CM000664.1:g.32350955_32360290del	GRCh37
NC_000002.10:g.32204459_32213794del	NCBI36
NG_008730.1:g.67276_76611del , LRG_714:g.67276_76611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*759-1062_*906-1342del
ENST00000315285.9:c.1099-1062_1246-1342del
ENST00000621856.2:c.1096-1062_1243-1342del
ENST00000642281.1:c.982+9674_983-1342del
ENST00000642455.1:c.1000-1062_1147-1342del
ENST00000642751.1:c.873-1062_1020-1342del
ENST00000642999.1:c.841-1062_988-1342del
ENST00000643327.1:c.258-1062_405-1342del
ENST00000643334.1:c.679-1062_826-1342del
ENST00000644408.1:c.975-1062_1122-1342del
ENST00000644954.1:c.745-1062_892-1342del
ENST00000645671.1:c.549-1062_696-1342del
ENST00000645730.1:c.446-1062_593-1888del
ENST00000646082.1:c.745-1062_892-1342del
ENST00000646571.1:c.1003-1062_1150-1342del
ENST00000647007.1:n.791-1062_938-1342del
ENST00000647133.1:c.674-2522_746-1342del
ENST00000315285.7:c.1099-1062_1246-1342del
ENST00000345662.5:c.1003-1062_1150-1342del
ENST00000615843.4:c.1099-1062_1246-1342del
ENST00000621856.1:c.841-1062_988-1342del
NM_014946.3:c.1099-1062_1246-1342del , LRG_714t1:c.1099-1062_1246-1342del
NM_199436.1:c.1003-1062_1150-1342del
XM_005264516.3:c.1096-1062_1243-1342del
XM_011533067.1:c.1099-1062_1246-1342del
NM_001363823.1:c.1096-1062_1243-1342del
NM_001363875.1:c.1000-1062_1147-1342del
XM_005264516.5:c.1096-1062_1243-1342del
XM_011533067.2:c.1099-1062_1246-1342del
XM_017004778.2:c.1003-1062_1150-1342del
NM_001363823.2:c.1096-1062_1243-1342del
NM_001363875.2:c.1000-1062_1147-1342del
NM_001377959.1:c.1003-1062_1150-1342del
NM_014946.4:c.1099-1062_1246-1342del
NM_199436.2:c.1003-1062_1150-1342del