Canonical Allele Identifier: CA2586964679

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126994_32126996dup , CM000664.2:g.32126994_32126996dup	GRCh38
NC_000002.11:g.32352063_32352065dup , CM000664.1:g.32352063_32352065dup	GRCh37
NC_000002.10:g.32205567_32205569dup	NCBI36
NG_008730.1:g.68384_68386dup , LRG_714:g.68384_68386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*805_*807dup	ENSP00000515816.1:n.*805_*807dup
ENST00000315285.9:c.1145_1147dup MANE Select	ENSP00000320885.3:p.Gly382_Pro383insArg
ENST00000621856.2:c.1142_1144dup	ENSP00000482496.2:p.Gly381_Pro382insArg
ENST00000642281.1:c.983-9569_983-9567dup
ENST00000642455.1:c.1046_1048dup	ENSP00000493827.1:p.Gly349_Pro350insArg
ENST00000642751.1:c.919_921dup
ENST00000642999.1:c.887_889dup	ENSP00000496589.1:p.Gly296_Pro297insArg
ENST00000643327.1:c.304_306dup
ENST00000643334.1:c.725_727dup
ENST00000644408.1:c.1021_1023dup
ENST00000644954.1:c.791_793dup	ENSP00000494312.1:p.Gly264_Pro265insArg
ENST00000645159.1:n.497_499dup
ENST00000645550.1:n.358_360dup
ENST00000645671.1:c.595_597dup
ENST00000645730.1:c.492_494dup
ENST00000646082.1:c.791_793dup
ENST00000646571.1:c.1049_1051dup	ENSP00000495015.1:p.Gly350_Pro351insArg
ENST00000647007.1:n.837_839dup
ENST00000647133.1:c.674-1414_674-1412dup
ENST00000315285.7:c.1145_1147dup	ENSP00000320885.3:p.Gly382_Pro383insArg
ENST00000345662.5:c.1049_1051dup	ENSP00000340817.1:p.Gly350_Pro351insArg
ENST00000615843.4:c.1145_1147dup	ENSP00000480893.1:p.Gly382_Pro383insArg
ENST00000621856.1:c.887_889dup	ENSP00000482496.1:p.Gly296_Pro297insArg
NM_014946.3:c.1145_1147dup , LRG_714t1:c.1145_1147dup	NP_055761.2:p.Gly382_Pro383insArg
NM_199436.1:c.1049_1051dup	NP_955468.1:p.Gly350_Pro351insArg
XM_005264516.3:c.1142_1144dup	XP_005264573.1:p.Gly381_Pro382insArg
XM_011533067.1:c.1145_1147dup	XP_011531369.1:p.Gly382_Pro383insArg
NM_001363823.1:c.1142_1144dup	NP_001350752.1:p.Gly381_Pro382insArg
NM_001363875.1:c.1046_1048dup	NP_001350804.1:p.Gly349_Pro350insArg
XM_005264516.5:c.1142_1144dup	XP_005264573.1:p.Gly381_Pro382insArg
XM_011533067.2:c.1145_1147dup	XP_011531369.1:p.Gly382_Pro383insArg
XM_017004778.2:c.1049_1051dup	XP_016860267.1:p.Gly350_Pro351insArg
NM_001363823.2:c.1142_1144dup	NP_001350752.1:p.Gly381_Pro382insArg
NM_001363875.2:c.1046_1048dup	NP_001350804.1:p.Gly349_Pro350insArg
NM_001377959.1:c.1049_1051dup	NP_001364888.1:p.Gly350_Pro351insArg
NM_014946.4:c.1145_1147dup MANE Select	NP_055761.2:p.Gly382_Pro383insArg
NM_199436.2:c.1049_1051dup	NP_955468.1:p.Gly350_Pro351insArg