Canonical Allele Identifier: CA2586964719

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128446_32128447del , CM000664.2:g.32128446_32128447del	GRCh38
NC_000002.11:g.32353515_32353516del , CM000664.1:g.32353515_32353516del	GRCh37
NC_000002.10:g.32207019_32207020del	NCBI36
NG_008730.1:g.69836_69837del , LRG_714:g.69836_69837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*872_*873del	ENSP00000515816.1:n.*872_*873del
ENST00000315285.9:c.1212_1213del MANE Select	ENSP00000320885.3:p.Phe404LeufsTer?
ENST00000621856.2:c.1209_1210del	ENSP00000482496.2:p.Phe403LeufsTer?
ENST00000642281.1:c.983-8117_983-8116del
ENST00000642455.1:c.1113_1114del	ENSP00000493827.1:p.Phe371LeufsTer?
ENST00000642751.1:c.986_987del
ENST00000642999.1:c.954_955del	ENSP00000496589.1:p.Phe318LeufsTer?
ENST00000643327.1:c.371_372del
ENST00000643334.1:c.792_793del
ENST00000644408.1:c.1088_1089del
ENST00000644954.1:c.858_859del	ENSP00000494312.1:p.Phe286LeufsTer?
ENST00000645159.1:n.1949_1950del
ENST00000645550.1:n.425_426del
ENST00000645671.1:c.662_663del
ENST00000645730.1:c.559_560del
ENST00000646082.1:c.858_859del
ENST00000646571.1:c.1116_1117del	ENSP00000495015.1:p.Phe372LeufsTer?
ENST00000647007.1:n.904_905del
ENST00000647133.1:c.712_713del
ENST00000315285.7:c.1212_1213del	ENSP00000320885.3:p.Phe404LeufsTer?
ENST00000345662.5:c.1116_1117del	ENSP00000340817.1:p.Phe372LeufsTer?
ENST00000615843.4:c.1212_1213del	ENSP00000480893.1:p.Phe404LeufsTer?
ENST00000621856.1:c.954_955del	ENSP00000482496.1:p.Phe318LeufsTer?
NM_014946.3:c.1212_1213del , LRG_714t1:c.1212_1213del	NP_055761.2:p.Phe404LeufsTer?
NM_199436.1:c.1116_1117del	NP_955468.1:p.Phe372LeufsTer?
XM_005264516.3:c.1209_1210del	XP_005264573.1:p.Phe403LeufsTer?
XM_011533067.1:c.1212_1213del	XP_011531369.1:p.Phe404LeufsTer?
NM_001363823.1:c.1209_1210del	NP_001350752.1:p.Phe403LeufsTer?
NM_001363875.1:c.1113_1114del	NP_001350804.1:p.Phe371LeufsTer?
XM_005264516.5:c.1209_1210del	XP_005264573.1:p.Phe403LeufsTer?
XM_011533067.2:c.1212_1213del	XP_011531369.1:p.Phe404LeufsTer?
XM_017004778.2:c.1116_1117del	XP_016860267.1:p.Phe372LeufsTer?
NM_001363823.2:c.1209_1210del	NP_001350752.1:p.Phe403LeufsTer?
NM_001363875.2:c.1113_1114del	NP_001350804.1:p.Phe371LeufsTer?
NM_001377959.1:c.1116_1117del	NP_001364888.1:p.Phe372LeufsTer?
NM_014946.4:c.1212_1213del MANE Select	NP_055761.2:p.Phe404LeufsTer?
NM_199436.2:c.1116_1117del	NP_955468.1:p.Phe372LeufsTer?