Canonical Allele Identifier: CA2586964749

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136610_32136611insT , CM000664.2:g.32136610_32136611insT	GRCh38
NC_000002.11:g.32361679_32361680insT , CM000664.1:g.32361679_32361680insT	GRCh37
NC_000002.10:g.32215183_32215184insT	NCBI36
NG_008730.1:g.78000_78001insT , LRG_714:g.78000_78001insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*953_*954insT	ENSP00000515816.1:n.*953_*954insT
ENST00000315285.9:c.1293_1294insT MANE Select	ENSP00000320885.3:p.Glu432Ter
ENST00000621856.2:c.1290_1291insT	ENSP00000482496.2:p.Glu431Ter
ENST00000642281.1:c.1030_1031insT
ENST00000642455.1:c.1194_1195insT	ENSP00000493827.1:p.Glu399Ter
ENST00000642751.1:c.1067_1068insT
ENST00000642999.1:c.1035_1036insT	ENSP00000496589.1:p.Glu346Ter
ENST00000643327.1:c.452_453insT
ENST00000643334.1:c.873_874insT
ENST00000644408.1:c.1169_1170insT
ENST00000644954.1:c.939_940insT	ENSP00000494312.1:p.Glu314Ter
ENST00000645159.1:n.2030_2031insT
ENST00000645671.1:c.743_744insT
ENST00000645730.1:c.593-499_593-498insT
ENST00000646082.1:c.939_940insT
ENST00000646571.1:c.1197_1198insT	ENSP00000495015.1:p.Glu400Ter
ENST00000647007.1:n.985_986insT
ENST00000647133.1:c.793_794insT
ENST00000315285.7:c.1293_1294insT	ENSP00000320885.3:p.Glu432Ter
ENST00000345662.5:c.1197_1198insT	ENSP00000340817.1:p.Glu400Ter
ENST00000615843.4:c.1293_1294insT	ENSP00000480893.1:p.Glu432Ter
ENST00000621856.1:c.1035_1036insT	ENSP00000482496.1:p.Glu346Ter
NM_014946.3:c.1293_1294insT , LRG_714t1:c.1293_1294insT	NP_055761.2:p.Glu432Ter
NM_199436.1:c.1197_1198insT	NP_955468.1:p.Glu400Ter
XM_005264516.3:c.1290_1291insT	XP_005264573.1:p.Glu431Ter
XM_011533067.1:c.1293_1294insT	XP_011531369.1:p.Glu432Ter
NM_001363823.1:c.1290_1291insT	NP_001350752.1:p.Glu431Ter
NM_001363875.1:c.1194_1195insT	NP_001350804.1:p.Glu399Ter
XM_005264516.5:c.1290_1291insT	XP_005264573.1:p.Glu431Ter
XM_011533067.2:c.1293_1294insT	XP_011531369.1:p.Glu432Ter
XM_017004778.2:c.1197_1198insT	XP_016860267.1:p.Glu400Ter
NM_001363823.2:c.1290_1291insT	NP_001350752.1:p.Glu431Ter
NM_001363875.2:c.1194_1195insT	NP_001350804.1:p.Glu399Ter
NM_001377959.1:c.1197_1198insT	NP_001364888.1:p.Glu400Ter
NM_014946.4:c.1293_1294insT MANE Select	NP_055761.2:p.Glu432Ter
NM_199436.2:c.1197_1198insT	NP_955468.1:p.Glu400Ter