Canonical Allele Identifier: CA2586964717

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128436del , CM000664.2:g.32128436del	GRCh38
NC_000002.11:g.32353505del , CM000664.1:g.32353505del	GRCh37
NC_000002.10:g.32207009del	NCBI36
NG_008730.1:g.69826del , LRG_714:g.69826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*862del	ENSP00000515816.1:n.*862del
ENST00000315285.9:c.1202del MANE Select	ENSP00000320885.3:p.Ala401GlufsTer6
ENST00000621856.2:c.1199del	ENSP00000482496.2:p.Ala400GlufsTer6
ENST00000642281.1:c.983-8127del
ENST00000642455.1:c.1103del	ENSP00000493827.1:p.Ala368GlufsTer6
ENST00000642751.1:c.976del
ENST00000642999.1:c.944del	ENSP00000496589.1:p.Ala315GlufsTer6
ENST00000643327.1:c.361del
ENST00000643334.1:c.782del
ENST00000644408.1:c.1078del
ENST00000644954.1:c.848del	ENSP00000494312.1:p.Ala283GlufsTer6
ENST00000645159.1:n.1939del
ENST00000645550.1:n.415del
ENST00000645671.1:c.652del
ENST00000645730.1:c.549del
ENST00000646082.1:c.848del
ENST00000646571.1:c.1106del	ENSP00000495015.1:p.Ala369GlufsTer6
ENST00000647007.1:n.894del
ENST00000647133.1:c.702del
ENST00000315285.7:c.1202del	ENSP00000320885.3:p.Ala401GlufsTer6
ENST00000345662.5:c.1106del	ENSP00000340817.1:p.Ala369GlufsTer6
ENST00000615843.4:c.1202del	ENSP00000480893.1:p.Ala401GlufsTer6
ENST00000621856.1:c.944del	ENSP00000482496.1:p.Ala315GlufsTer6
NM_014946.3:c.1202del , LRG_714t1:c.1202del	NP_055761.2:p.Ala401GlufsTer6
NM_199436.1:c.1106del	NP_955468.1:p.Ala369GlufsTer6
XM_005264516.3:c.1199del	XP_005264573.1:p.Ala400GlufsTer6
XM_011533067.1:c.1202del	XP_011531369.1:p.Ala401GlufsTer6
NM_001363823.1:c.1199del	NP_001350752.1:p.Ala400GlufsTer6
NM_001363875.1:c.1103del	NP_001350804.1:p.Ala368GlufsTer6
XM_005264516.5:c.1199del	XP_005264573.1:p.Ala400GlufsTer6
XM_011533067.2:c.1202del	XP_011531369.1:p.Ala401GlufsTer6
XM_017004778.2:c.1106del	XP_016860267.1:p.Ala369GlufsTer6
NM_001363823.2:c.1199del	NP_001350752.1:p.Ala400GlufsTer6
NM_001363875.2:c.1103del	NP_001350804.1:p.Ala368GlufsTer6
NM_001377959.1:c.1106del	NP_001364888.1:p.Ala369GlufsTer6
NM_014946.4:c.1202del MANE Select	NP_055761.2:p.Ala401GlufsTer6
NM_199436.2:c.1106del	NP_955468.1:p.Ala369GlufsTer6