Canonical Allele Identifier: CA2586964747

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136609_32136611del , CM000664.2:g.32136609_32136611del	GRCh38
NC_000002.11:g.32361678_32361680del , CM000664.1:g.32361678_32361680del	GRCh37
NC_000002.10:g.32215182_32215184del	NCBI36
NG_008730.1:g.77999_78001del , LRG_714:g.77999_78001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*952_*954del	ENSP00000515816.1:n.*952_*954del
ENST00000315285.9:c.1292_1294del MANE Select	ENSP00000320885.3:p.Arg431_Glu432delinsGln
ENST00000621856.2:c.1289_1291del	ENSP00000482496.2:p.Arg430_Glu431delinsGln
ENST00000642281.1:c.1029_1031del
ENST00000642455.1:c.1193_1195del	ENSP00000493827.1:p.Arg398_Glu399delinsGln
ENST00000642751.1:c.1066_1068del
ENST00000642999.1:c.1034_1036del	ENSP00000496589.1:p.Arg345_Glu346delinsGln
ENST00000643327.1:c.451_453del
ENST00000643334.1:c.872_874del
ENST00000644408.1:c.1168_1170del
ENST00000644954.1:c.938_940del	ENSP00000494312.1:p.Arg313_Glu314delinsGln
ENST00000645159.1:n.2029_2031del
ENST00000645671.1:c.742_744del
ENST00000645730.1:c.593-500_593-498del
ENST00000646082.1:c.938_940del
ENST00000646571.1:c.1196_1198del	ENSP00000495015.1:p.Arg399_Glu400delinsGln
ENST00000647007.1:n.984_986del
ENST00000647133.1:c.792_794del
ENST00000315285.7:c.1292_1294del	ENSP00000320885.3:p.Arg431_Glu432delinsGln
ENST00000345662.5:c.1196_1198del	ENSP00000340817.1:p.Arg399_Glu400delinsGln
ENST00000615843.4:c.1292_1294del	ENSP00000480893.1:p.Arg431_Glu432delinsGln
ENST00000621856.1:c.1034_1036del	ENSP00000482496.1:p.Arg345_Glu346delinsGln
NM_014946.3:c.1292_1294del , LRG_714t1:c.1292_1294del	NP_055761.2:p.Arg431_Glu432delinsGln
NM_199436.1:c.1196_1198del	NP_955468.1:p.Arg399_Glu400delinsGln
XM_005264516.3:c.1289_1291del	XP_005264573.1:p.Arg430_Glu431delinsGln
XM_011533067.1:c.1292_1294del	XP_011531369.1:p.Arg431_Glu432delinsGln
NM_001363823.1:c.1289_1291del	NP_001350752.1:p.Arg430_Glu431delinsGln
NM_001363875.1:c.1193_1195del	NP_001350804.1:p.Arg398_Glu399delinsGln
XM_005264516.5:c.1289_1291del	XP_005264573.1:p.Arg430_Glu431delinsGln
XM_011533067.2:c.1292_1294del	XP_011531369.1:p.Arg431_Glu432delinsGln
XM_017004778.2:c.1196_1198del	XP_016860267.1:p.Arg399_Glu400delinsGln
NM_001363823.2:c.1289_1291del	NP_001350752.1:p.Arg430_Glu431delinsGln
NM_001363875.2:c.1193_1195del	NP_001350804.1:p.Arg398_Glu399delinsGln
NM_001377959.1:c.1196_1198del	NP_001364888.1:p.Arg399_Glu400delinsGln
NM_014946.4:c.1292_1294del MANE Select	NP_055761.2:p.Arg431_Glu432delinsGln
NM_199436.2:c.1196_1198del	NP_955468.1:p.Arg399_Glu400delinsGln