Canonical Allele Identifier: CA2586964765

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136932_32136933delinsCTA , CM000664.2:g.32136932_32136933delinsCTA	GRCh38
NC_000002.11:g.32362001_32362002delinsCTA , CM000664.1:g.32362001_32362002delinsCTA	GRCh37
NC_000002.10:g.32215505_32215506delinsCTA	NCBI36
NG_008730.1:g.78322_78323delinsCTA , LRG_714:g.78322_78323delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1037_*1038delinsCTA	ENSP00000515816.1:n.*1037_*1038delinsCTA
ENST00000315285.9:c.1377_1378delinsCTA MANE Select	ENSP00000320885.3:p.Arg459SerfsTer2
ENST00000621856.2:c.1374_1375delinsCTA	ENSP00000482496.2:p.Arg458SerfsTer2
ENST00000642281.1:c.1114_1115delinsCTA
ENST00000642455.1:c.1278_1279delinsCTA	ENSP00000493827.1:p.Arg426SerfsTer2
ENST00000642751.1:c.1151_1152delinsCTA
ENST00000642999.1:c.1119_1120delinsCTA	ENSP00000496589.1:p.Arg373SerfsTer2
ENST00000643327.1:c.481-177_481-176delinsCTA
ENST00000643334.1:c.957_958delinsCTA
ENST00000644408.1:c.1253_1254delinsCTA
ENST00000644954.1:c.1023_1024delinsCTA	ENSP00000494312.1:p.Arg341SerfsTer2
ENST00000645159.1:n.2114_2115delinsCTA
ENST00000645671.1:c.827_828delinsCTA
ENST00000645730.1:c.593-177_593-176delinsCTA
ENST00000646082.1:c.1023_1024delinsCTA
ENST00000646571.1:c.1281_1282delinsCTA	ENSP00000495015.1:p.Arg427SerfsTer2
ENST00000647007.1:n.1069_1070delinsCTA
ENST00000647133.1:c.877_878delinsCTA
ENST00000315285.7:c.1377_1378delinsCTA	ENSP00000320885.3:p.Arg459SerfsTer2
ENST00000345662.5:c.1281_1282delinsCTA	ENSP00000340817.1:p.Arg427SerfsTer2
ENST00000615843.4:c.1377_1378delinsCTA	ENSP00000480893.1:p.Arg459SerfsTer2
ENST00000621856.1:c.1119_1120delinsCTA	ENSP00000482496.1:p.Arg373SerfsTer2
NM_014946.3:c.1377_1378delinsCTA , LRG_714t1:c.1377_1378delinsCTA	NP_055761.2:p.Arg459SerfsTer2
NM_199436.1:c.1281_1282delinsCTA	NP_955468.1:p.Arg427SerfsTer2
XM_005264516.3:c.1374_1375delinsCTA	XP_005264573.1:p.Arg458SerfsTer2
XM_011533067.1:c.1377_1378delinsCTA	XP_011531369.1:p.Arg459SerfsTer2
NM_001363823.1:c.1374_1375delinsCTA	NP_001350752.1:p.Arg458SerfsTer2
NM_001363875.1:c.1278_1279delinsCTA	NP_001350804.1:p.Arg426SerfsTer2
XM_005264516.5:c.1374_1375delinsCTA	XP_005264573.1:p.Arg458SerfsTer2
XM_011533067.2:c.1377_1378delinsCTA	XP_011531369.1:p.Arg459SerfsTer2
XM_017004778.2:c.1281_1282delinsCTA	XP_016860267.1:p.Arg427SerfsTer2
NM_001363823.2:c.1374_1375delinsCTA	NP_001350752.1:p.Arg458SerfsTer2
NM_001363875.2:c.1278_1279delinsCTA	NP_001350804.1:p.Arg426SerfsTer2
NM_001377959.1:c.1281_1282delinsCTA	NP_001364888.1:p.Arg427SerfsTer2
NM_014946.4:c.1377_1378delinsCTA MANE Select	NP_055761.2:p.Arg459SerfsTer2
NM_199436.2:c.1281_1282delinsCTA	NP_955468.1:p.Arg427SerfsTer2