Canonical Allele Identifier: CA2586964714

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128426_32128427delinsT , CM000664.2:g.32128426_32128427delinsT	GRCh38
NC_000002.11:g.32353495_32353496delinsT , CM000664.1:g.32353495_32353496delinsT	GRCh37
NC_000002.10:g.32206999_32207000delinsT	NCBI36
NG_008730.1:g.69816_69817delinsT , LRG_714:g.69816_69817delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*852_*853delinsT	ENSP00000515816.1:n.*852_*853delinsT
ENST00000315285.9:c.1192_1193delinsT MANE Select	ENSP00000320885.3:p.Glu398TyrfsTer9
ENST00000621856.2:c.1189_1190delinsT	ENSP00000482496.2:p.Glu397TyrfsTer9
ENST00000642281.1:c.983-8137_983-8136delinsT
ENST00000642455.1:c.1093_1094delinsT	ENSP00000493827.1:p.Glu365TyrfsTer9
ENST00000642751.1:c.966_967delinsT
ENST00000642999.1:c.934_935delinsT	ENSP00000496589.1:p.Glu312TyrfsTer9
ENST00000643327.1:c.351_352delinsT
ENST00000643334.1:c.772_773delinsT
ENST00000644408.1:c.1068_1069delinsT
ENST00000644954.1:c.838_839delinsT	ENSP00000494312.1:p.Glu280TyrfsTer9
ENST00000645159.1:n.1929_1930delinsT
ENST00000645550.1:n.405_406delinsT
ENST00000645671.1:c.642_643delinsT
ENST00000645730.1:c.539_540delinsT
ENST00000646082.1:c.838_839delinsT
ENST00000646571.1:c.1096_1097delinsT	ENSP00000495015.1:p.Glu366TyrfsTer9
ENST00000647007.1:n.884_885delinsT
ENST00000647133.1:c.692_693delinsT
ENST00000315285.7:c.1192_1193delinsT	ENSP00000320885.3:p.Glu398TyrfsTer9
ENST00000345662.5:c.1096_1097delinsT	ENSP00000340817.1:p.Glu366TyrfsTer9
ENST00000615843.4:c.1192_1193delinsT	ENSP00000480893.1:p.Glu398TyrfsTer9
ENST00000621856.1:c.934_935delinsT	ENSP00000482496.1:p.Glu312TyrfsTer9
NM_014946.3:c.1192_1193delinsT , LRG_714t1:c.1192_1193delinsT	NP_055761.2:p.Glu398TyrfsTer9
NM_199436.1:c.1096_1097delinsT	NP_955468.1:p.Glu366TyrfsTer9
XM_005264516.3:c.1189_1190delinsT	XP_005264573.1:p.Glu397TyrfsTer9
XM_011533067.1:c.1192_1193delinsT	XP_011531369.1:p.Glu398TyrfsTer9
NM_001363823.1:c.1189_1190delinsT	NP_001350752.1:p.Glu397TyrfsTer9
NM_001363875.1:c.1093_1094delinsT	NP_001350804.1:p.Glu365TyrfsTer9
XM_005264516.5:c.1189_1190delinsT	XP_005264573.1:p.Glu397TyrfsTer9
XM_011533067.2:c.1192_1193delinsT	XP_011531369.1:p.Glu398TyrfsTer9
XM_017004778.2:c.1096_1097delinsT	XP_016860267.1:p.Glu366TyrfsTer9
NM_001363823.2:c.1189_1190delinsT	NP_001350752.1:p.Glu397TyrfsTer9
NM_001363875.2:c.1093_1094delinsT	NP_001350804.1:p.Glu365TyrfsTer9
NM_001377959.1:c.1096_1097delinsT	NP_001364888.1:p.Glu366TyrfsTer9
NM_014946.4:c.1192_1193delinsT MANE Select	NP_055761.2:p.Glu398TyrfsTer9
NM_199436.2:c.1096_1097delinsT	NP_955468.1:p.Glu366TyrfsTer9