Canonical Allele Identifier: CA2586964660

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126983_32126984del , CM000664.2:g.32126983_32126984del	GRCh38
NC_000002.11:g.32352052_32352053del , CM000664.1:g.32352052_32352053del	GRCh37
NC_000002.10:g.32205556_32205557del	NCBI36
NG_008730.1:g.68373_68374del , LRG_714:g.68373_68374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*794_*795del	ENSP00000515816.1:n.*794_*795del
ENST00000315285.9:c.1134_1135del MANE Select	ENSP00000320885.3:p.Leu379ThrfsTer14
ENST00000621856.2:c.1131_1132del	ENSP00000482496.2:p.Leu378ThrfsTer14
ENST00000642281.1:c.983-9580_983-9579del
ENST00000642455.1:c.1035_1036del	ENSP00000493827.1:p.Leu346ThrfsTer14
ENST00000642751.1:c.908_909del
ENST00000642999.1:c.876_877del	ENSP00000496589.1:p.Leu293ThrfsTer14
ENST00000643327.1:c.293_294del
ENST00000643334.1:c.714_715del
ENST00000644408.1:c.1010_1011del
ENST00000644954.1:c.780_781del	ENSP00000494312.1:p.Leu261ThrfsTer14
ENST00000645159.1:n.486_487del
ENST00000645550.1:n.347_348del
ENST00000645671.1:c.584_585del
ENST00000645730.1:c.481_482del
ENST00000646082.1:c.780_781del
ENST00000646571.1:c.1038_1039del	ENSP00000495015.1:p.Leu347ThrfsTer14
ENST00000647007.1:n.826_827del
ENST00000647133.1:c.674-1425_674-1424del
ENST00000315285.7:c.1134_1135del	ENSP00000320885.3:p.Leu379ThrfsTer14
ENST00000345662.5:c.1038_1039del	ENSP00000340817.1:p.Leu347ThrfsTer14
ENST00000615843.4:c.1134_1135del	ENSP00000480893.1:p.Leu379ThrfsTer14
ENST00000621856.1:c.876_877del	ENSP00000482496.1:p.Leu293ThrfsTer14
NM_014946.3:c.1134_1135del , LRG_714t1:c.1134_1135del	NP_055761.2:p.Leu379ThrfsTer14
NM_199436.1:c.1038_1039del	NP_955468.1:p.Leu347ThrfsTer14
XM_005264516.3:c.1131_1132del	XP_005264573.1:p.Leu378ThrfsTer14
XM_011533067.1:c.1134_1135del	XP_011531369.1:p.Leu379ThrfsTer14
NM_001363823.1:c.1131_1132del	NP_001350752.1:p.Leu378ThrfsTer14
NM_001363875.1:c.1035_1036del	NP_001350804.1:p.Leu346ThrfsTer14
XM_005264516.5:c.1131_1132del	XP_005264573.1:p.Leu378ThrfsTer14
XM_011533067.2:c.1134_1135del	XP_011531369.1:p.Leu379ThrfsTer14
XM_017004778.2:c.1038_1039del	XP_016860267.1:p.Leu347ThrfsTer14
NM_001363823.2:c.1131_1132del	NP_001350752.1:p.Leu378ThrfsTer14
NM_001363875.2:c.1035_1036del	NP_001350804.1:p.Leu346ThrfsTer14
NM_001377959.1:c.1038_1039del	NP_001364888.1:p.Leu347ThrfsTer14
NM_014946.4:c.1134_1135del MANE Select	NP_055761.2:p.Leu379ThrfsTer14
NM_199436.2:c.1038_1039del	NP_955468.1:p.Leu347ThrfsTer14