Canonical Allele Identifier: CA2586964756

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136906_32136908del , CM000664.2:g.32136906_32136908del	GRCh38
NC_000002.11:g.32361975_32361977del , CM000664.1:g.32361975_32361977del	GRCh37
NC_000002.10:g.32215479_32215481del	NCBI36
NG_008730.1:g.78296_78298del , LRG_714:g.78296_78298del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1011_*1013del	ENSP00000515816.1:n.*1011_*1013del
ENST00000315285.9:c.1351_1353del MANE Select	ENSP00000320885.3:p.Arg451del
ENST00000621856.2:c.1348_1350del	ENSP00000482496.2:p.Arg450del
ENST00000642281.1:c.1088_1090del
ENST00000642455.1:c.1252_1254del	ENSP00000493827.1:p.Arg418del
ENST00000642751.1:c.1125_1127del
ENST00000642999.1:c.1093_1095del	ENSP00000496589.1:p.Arg365del
ENST00000643327.1:c.481-203_481-201del
ENST00000643334.1:c.931_933del
ENST00000644408.1:c.1227_1229del
ENST00000644954.1:c.997_999del	ENSP00000494312.1:p.Arg333del
ENST00000645159.1:n.2088_2090del
ENST00000645671.1:c.801_803del
ENST00000645730.1:c.593-203_593-201del
ENST00000646082.1:c.997_999del
ENST00000646571.1:c.1255_1257del	ENSP00000495015.1:p.Arg419del
ENST00000647007.1:n.1043_1045del
ENST00000647133.1:c.851_853del
ENST00000315285.7:c.1351_1353del	ENSP00000320885.3:p.Arg451del
ENST00000345662.5:c.1255_1257del	ENSP00000340817.1:p.Arg419del
ENST00000615843.4:c.1351_1353del	ENSP00000480893.1:p.Arg451del
ENST00000621856.1:c.1093_1095del	ENSP00000482496.1:p.Arg365del
NM_014946.3:c.1351_1353del , LRG_714t1:c.1351_1353del	NP_055761.2:p.Arg451del
NM_199436.1:c.1255_1257del	NP_955468.1:p.Arg419del
XM_005264516.3:c.1348_1350del	XP_005264573.1:p.Arg450del
XM_011533067.1:c.1351_1353del	XP_011531369.1:p.Arg451del
NM_001363823.1:c.1348_1350del	NP_001350752.1:p.Arg450del
NM_001363875.1:c.1252_1254del	NP_001350804.1:p.Arg418del
XM_005264516.5:c.1348_1350del	XP_005264573.1:p.Arg450del
XM_011533067.2:c.1351_1353del	XP_011531369.1:p.Arg451del
XM_017004778.2:c.1255_1257del	XP_016860267.1:p.Arg419del
NM_001363823.2:c.1348_1350del	NP_001350752.1:p.Arg450del
NM_001363875.2:c.1252_1254del	NP_001350804.1:p.Arg418del
NM_001377959.1:c.1255_1257del	NP_001364888.1:p.Arg419del
NM_014946.4:c.1351_1353del MANE Select	NP_055761.2:p.Arg451del
NM_199436.2:c.1255_1257del	NP_955468.1:p.Arg419del