Canonical Allele Identifier: CA2586964685

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127010_32127019del , CM000664.2:g.32127010_32127019del	GRCh38
NC_000002.11:g.32352079_32352088del , CM000664.1:g.32352079_32352088del	GRCh37
NC_000002.10:g.32205583_32205592del	NCBI36
NG_008730.1:g.68400_68409del , LRG_714:g.68400_68409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*821_*830del	ENSP00000515816.1:n.*821_*830del
ENST00000315285.9:c.1161_1170del MANE Select	ENSP00000320885.3:p.Lys388TrpfsTer5
ENST00000621856.2:c.1158_1167del	ENSP00000482496.2:p.Lys387TrpfsTer5
ENST00000642281.1:c.983-9553_983-9544del
ENST00000642455.1:c.1062_1071del	ENSP00000493827.1:p.Lys355TrpfsTer5
ENST00000642751.1:c.935_944del
ENST00000642999.1:c.903_912del	ENSP00000496589.1:p.Lys302TrpfsTer5
ENST00000643327.1:c.320_329del
ENST00000643334.1:c.741_750del
ENST00000644408.1:c.1037_1046del
ENST00000644954.1:c.807_816del	ENSP00000494312.1:p.Lys270TrpfsTer5
ENST00000645159.1:n.513_522del
ENST00000645550.1:n.374_383del
ENST00000645671.1:c.611_620del
ENST00000645730.1:c.508_517del
ENST00000646082.1:c.807_816del
ENST00000646571.1:c.1065_1074del	ENSP00000495015.1:p.Lys356TrpfsTer5
ENST00000647007.1:n.853_862del
ENST00000647133.1:c.674-1398_674-1389del
ENST00000315285.7:c.1161_1170del	ENSP00000320885.3:p.Lys388TrpfsTer5
ENST00000345662.5:c.1065_1074del	ENSP00000340817.1:p.Lys356TrpfsTer5
ENST00000615843.4:c.1161_1170del	ENSP00000480893.1:p.Lys388TrpfsTer5
ENST00000621856.1:c.903_912del	ENSP00000482496.1:p.Lys302TrpfsTer5
NM_014946.3:c.1161_1170del , LRG_714t1:c.1161_1170del	NP_055761.2:p.Lys388TrpfsTer5
NM_199436.1:c.1065_1074del	NP_955468.1:p.Lys356TrpfsTer5
XM_005264516.3:c.1158_1167del	XP_005264573.1:p.Lys387TrpfsTer5
XM_011533067.1:c.1161_1170del	XP_011531369.1:p.Lys388TrpfsTer5
NM_001363823.1:c.1158_1167del	NP_001350752.1:p.Lys387TrpfsTer5
NM_001363875.1:c.1062_1071del	NP_001350804.1:p.Lys355TrpfsTer5
XM_005264516.5:c.1158_1167del	XP_005264573.1:p.Lys387TrpfsTer5
XM_011533067.2:c.1161_1170del	XP_011531369.1:p.Lys388TrpfsTer5
XM_017004778.2:c.1065_1074del	XP_016860267.1:p.Lys356TrpfsTer5
NM_001363823.2:c.1158_1167del	NP_001350752.1:p.Lys387TrpfsTer5
NM_001363875.2:c.1062_1071del	NP_001350804.1:p.Lys355TrpfsTer5
NM_001377959.1:c.1065_1074del	NP_001364888.1:p.Lys356TrpfsTer5
NM_014946.4:c.1161_1170del MANE Select	NP_055761.2:p.Lys388TrpfsTer5
NM_199436.2:c.1065_1074del	NP_955468.1:p.Lys356TrpfsTer5