Canonical Allele Identifier: CA2586964682

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127009_32127019del , CM000664.2:g.32127009_32127019del	GRCh38
NC_000002.11:g.32352078_32352088del , CM000664.1:g.32352078_32352088del	GRCh37
NC_000002.10:g.32205582_32205592del	NCBI36
NG_008730.1:g.68399_68409del , LRG_714:g.68399_68409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*820_*830del	ENSP00000515816.1:n.*820_*830del
ENST00000315285.9:c.1160_1170del MANE Select	ENSP00000320885.3:p.Gly387AlafsTer3
ENST00000621856.2:c.1157_1167del	ENSP00000482496.2:p.Gly386AlafsTer3
ENST00000642281.1:c.983-9554_983-9544del
ENST00000642455.1:c.1061_1071del	ENSP00000493827.1:p.Gly354AlafsTer3
ENST00000642751.1:c.934_944del
ENST00000642999.1:c.902_912del	ENSP00000496589.1:p.Gly301AlafsTer3
ENST00000643327.1:c.319_329del
ENST00000643334.1:c.740_750del
ENST00000644408.1:c.1036_1046del
ENST00000644954.1:c.806_816del	ENSP00000494312.1:p.Gly269AlafsTer3
ENST00000645159.1:n.512_522del
ENST00000645550.1:n.373_383del
ENST00000645671.1:c.610_620del
ENST00000645730.1:c.507_517del
ENST00000646082.1:c.806_816del
ENST00000646571.1:c.1064_1074del	ENSP00000495015.1:p.Gly355AlafsTer3
ENST00000647007.1:n.852_862del
ENST00000647133.1:c.674-1399_674-1389del
ENST00000315285.7:c.1160_1170del	ENSP00000320885.3:p.Gly387AlafsTer3
ENST00000345662.5:c.1064_1074del	ENSP00000340817.1:p.Gly355AlafsTer3
ENST00000615843.4:c.1160_1170del	ENSP00000480893.1:p.Gly387AlafsTer3
ENST00000621856.1:c.902_912del	ENSP00000482496.1:p.Gly301AlafsTer3
NM_014946.3:c.1160_1170del , LRG_714t1:c.1160_1170del	NP_055761.2:p.Gly387AlafsTer3
NM_199436.1:c.1064_1074del	NP_955468.1:p.Gly355AlafsTer3
XM_005264516.3:c.1157_1167del	XP_005264573.1:p.Gly386AlafsTer3
XM_011533067.1:c.1160_1170del	XP_011531369.1:p.Gly387AlafsTer3
NM_001363823.1:c.1157_1167del	NP_001350752.1:p.Gly386AlafsTer3
NM_001363875.1:c.1061_1071del	NP_001350804.1:p.Gly354AlafsTer3
XM_005264516.5:c.1157_1167del	XP_005264573.1:p.Gly386AlafsTer3
XM_011533067.2:c.1160_1170del	XP_011531369.1:p.Gly387AlafsTer3
XM_017004778.2:c.1064_1074del	XP_016860267.1:p.Gly355AlafsTer3
NM_001363823.2:c.1157_1167del	NP_001350752.1:p.Gly386AlafsTer3
NM_001363875.2:c.1061_1071del	NP_001350804.1:p.Gly354AlafsTer3
NM_001377959.1:c.1064_1074del	NP_001364888.1:p.Gly355AlafsTer3
NM_014946.4:c.1160_1170del MANE Select	NP_055761.2:p.Gly387AlafsTer3
NM_199436.2:c.1064_1074del	NP_955468.1:p.Gly355AlafsTer3