Canonical Allele Identifier: CA2580066404

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2008940
• ClinVar RCV Id: RCV002829010

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136542_32136549del , CM000664.2:g.32136542_32136549del	GRCh38
NC_000002.11:g.32361611_32361618del , CM000664.1:g.32361611_32361618del	GRCh37
NC_000002.10:g.32215115_32215122del	NCBI36
NG_008730.1:g.77932_77939del , LRG_714:g.77932_77939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*906-21_*906-14del	ENSP00000515816.1:n.*906-21_*906-14del
ENST00000315285.9:c.1246-21_1246-14del MANE Select	ENSP00000320885.3:n.1246-21_1246-14del
ENST00000621856.2:c.1243-21_1243-14del	ENSP00000482496.2:n.1243-21_1243-14del
ENST00000642281.1:c.983-21_983-14del
ENST00000642455.1:c.1147-21_1147-14del	ENSP00000493827.1:n.1147-21_1147-14del
ENST00000642751.1:c.1020-21_1020-14del
ENST00000642999.1:c.988-21_988-14del	ENSP00000496589.1:n.988-21_988-14del
ENST00000643327.1:c.405-21_405-14del
ENST00000643334.1:c.826-21_826-14del
ENST00000644408.1:c.1122-21_1122-14del
ENST00000644954.1:c.892-21_892-14del	ENSP00000494312.1:n.892-21_892-14del
ENST00000645159.1:n.1983-21_1983-14del
ENST00000645671.1:c.696-21_696-14del
ENST00000645730.1:c.593-567_593-560del
ENST00000646082.1:c.892-21_892-14del
ENST00000646571.1:c.1150-21_1150-14del	ENSP00000495015.1:n.1150-21_1150-14del
ENST00000647007.1:n.938-21_938-14del
ENST00000647133.1:c.746-21_746-14del
ENST00000315285.7:c.1246-21_1246-14del	ENSP00000320885.3:n.1246-21_1246-14del
ENST00000345662.5:c.1150-21_1150-14del	ENSP00000340817.1:n.1150-21_1150-14del
ENST00000615843.4:c.1246-21_1246-14del	ENSP00000480893.1:n.1246-21_1246-14del
ENST00000621856.1:c.988-21_988-14del	ENSP00000482496.1:n.988-21_988-14del
NM_014946.3:c.1246-21_1246-14del , LRG_714t1:c.1246-21_1246-14del	NP_055761.2:n.1246-21_1246-14del
NM_199436.1:c.1150-21_1150-14del	NP_955468.1:n.1150-21_1150-14del
XM_005264516.3:c.1243-21_1243-14del	XP_005264573.1:n.1243-21_1243-14del
XM_011533067.1:c.1246-21_1246-14del	XP_011531369.1:n.1246-21_1246-14del
NM_001363823.1:c.1243-21_1243-14del	NP_001350752.1:n.1243-21_1243-14del
NM_001363875.1:c.1147-21_1147-14del	NP_001350804.1:n.1147-21_1147-14del
XM_005264516.5:c.1243-21_1243-14del	XP_005264573.1:n.1243-21_1243-14del
XM_011533067.2:c.1246-21_1246-14del	XP_011531369.1:n.1246-21_1246-14del
XM_017004778.2:c.1150-21_1150-14del	XP_016860267.1:n.1150-21_1150-14del
NM_001363823.2:c.1243-21_1243-14del	NP_001350752.1:n.1243-21_1243-14del
NM_001363875.2:c.1147-21_1147-14del	NP_001350804.1:n.1147-21_1147-14del
NM_001377959.1:c.1150-21_1150-14del	NP_001364888.1:n.1150-21_1150-14del
NM_014946.4:c.1246-21_1246-14del MANE Select	NP_055761.2:n.1246-21_1246-14del
NM_199436.2:c.1150-21_1150-14del	NP_955468.1:n.1150-21_1150-14del