Canonical Allele Identifier: CA2586964782

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137165del , CM000664.2:g.32137165del	GRCh38
NC_000002.11:g.32362234del , CM000664.1:g.32362234del	GRCh37
NC_000002.10:g.32215738del	NCBI36
NG_008730.1:g.78555del , LRG_714:g.78555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1130del	ENSP00000515816.1:n.*1130del
ENST00000315285.9:c.1470del MANE Select	ENSP00000320885.3:p.Glu491SerfsTer?
ENST00000621856.2:c.1467del	ENSP00000482496.2:p.Glu490SerfsTer?
ENST00000642281.1:c.1207del
ENST00000642455.1:c.1371del	ENSP00000493827.1:p.Glu458SerfsTer?
ENST00000642751.1:c.1244del
ENST00000642999.1:c.1212del	ENSP00000496589.1:p.Glu405SerfsTer?
ENST00000643327.1:c.537del
ENST00000643334.1:c.1050del
ENST00000644408.1:c.1346del
ENST00000644954.1:c.1116del	ENSP00000494312.1:p.Glu373SerfsTer?
ENST00000645159.1:n.2207del
ENST00000645671.1:c.920del
ENST00000645730.1:c.649del
ENST00000646082.1:c.1116del
ENST00000646571.1:c.1374del	ENSP00000495015.1:p.Glu459SerfsTer?
ENST00000647007.1:n.1162del
ENST00000647133.1:c.970del
ENST00000315285.7:c.1470del	ENSP00000320885.3:p.Glu491SerfsTer?
ENST00000345662.5:c.1374del	ENSP00000340817.1:p.Glu459SerfsTer?
ENST00000615843.4:c.1470del	ENSP00000480893.1:p.Glu491SerfsTer?
ENST00000621856.1:c.1212del	ENSP00000482496.1:p.Glu405SerfsTer?
NM_014946.3:c.1470del , LRG_714t1:c.1470del	NP_055761.2:p.Glu491SerfsTer?
NM_199436.1:c.1374del	NP_955468.1:p.Glu459SerfsTer?
XM_005264516.3:c.1467del	XP_005264573.1:p.Glu490SerfsTer?
XM_011533067.1:c.1470del	XP_011531369.1:p.Glu491SerfsTer?
NM_001363823.1:c.1467del	NP_001350752.1:p.Glu490SerfsTer?
NM_001363875.1:c.1371del	NP_001350804.1:p.Glu458SerfsTer?
XM_005264516.5:c.1467del	XP_005264573.1:p.Glu490SerfsTer?
XM_011533067.2:c.1470del	XP_011531369.1:p.Glu491SerfsTer?
XM_017004778.2:c.1374del	XP_016860267.1:p.Glu459SerfsTer?
NM_001363823.2:c.1467del	NP_001350752.1:p.Glu490SerfsTer?
NM_001363875.2:c.1371del	NP_001350804.1:p.Glu458SerfsTer?
NM_001377959.1:c.1374del	NP_001364888.1:p.Glu459SerfsTer?
NM_014946.4:c.1470del MANE Select	NP_055761.2:p.Glu491SerfsTer?
NM_199436.2:c.1374del	NP_955468.1:p.Glu459SerfsTer?