Canonical Allele Identifier: CA1242501123

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136577_32136579delinsGAA , CM000664.2:g.32136577_32136579delinsGAA	GRCh38
NC_000002.11:g.32361646_32361648delinsGAA , CM000664.1:g.32361646_32361648delinsGAA	GRCh37
NC_000002.10:g.32215150_32215152delinsGAA	NCBI36
NG_008730.1:g.77967_77969delinsGAA , LRG_714:g.77967_77969delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*920_*922delinsGAA	ENSP00000515816.1:n.*920_*922delinsGAA
ENST00000315285.9:c.1260_1262delinsGAA MANE Select	ENSP00000320885.3:p.Glu420=
ENST00000621856.2:c.1257_1259delinsGAA	ENSP00000482496.2:p.Glu419=
ENST00000642281.1:c.997_999delinsGAA
ENST00000642455.1:c.1161_1163delinsGAA	ENSP00000493827.1:p.Glu387=
ENST00000642751.1:c.1034_1036delinsGAA
ENST00000642999.1:c.1002_1004delinsGAA	ENSP00000496589.1:p.Glu334=
ENST00000643327.1:c.419_421delinsGAA
ENST00000643334.1:c.840_842delinsGAA
ENST00000644408.1:c.1136_1138delinsGAA
ENST00000644954.1:c.906_908delinsGAA	ENSP00000494312.1:p.Glu302=
ENST00000645159.1:n.1997_1999delinsGAA
ENST00000645671.1:c.710_712delinsGAA
ENST00000645730.1:c.593-532_593-530delinsGAA
ENST00000646082.1:c.906_908delinsGAA
ENST00000646571.1:c.1164_1166delinsGAA	ENSP00000495015.1:p.Glu388=
ENST00000647007.1:n.952_954delinsGAA
ENST00000647133.1:c.760_762delinsGAA
ENST00000315285.7:c.1260_1262delinsGAA	ENSP00000320885.3:p.Glu420=
ENST00000345662.5:c.1164_1166delinsGAA	ENSP00000340817.1:p.Glu388=
ENST00000615843.4:c.1260_1262delinsGAA	ENSP00000480893.1:p.Glu420=
ENST00000621856.1:c.1002_1004delinsGAA	ENSP00000482496.1:p.Glu334=
NM_014946.3:c.1260_1262delinsGAA , LRG_714t1:c.1260_1262delinsGAA	NP_055761.2:p.Glu420=
NM_199436.1:c.1164_1166delinsGAA	NP_955468.1:p.Glu388=
XM_005264516.3:c.1257_1259delinsGAA	XP_005264573.1:p.Glu419=
XM_011533067.1:c.1260_1262delinsGAA	XP_011531369.1:p.Glu420=
NM_001363823.1:c.1257_1259delinsGAA	NP_001350752.1:p.Glu419=
NM_001363875.1:c.1161_1163delinsGAA	NP_001350804.1:p.Glu387=
XM_005264516.5:c.1257_1259delinsGAA	XP_005264573.1:p.Glu419=
XM_011533067.2:c.1260_1262delinsGAA	XP_011531369.1:p.Glu420=
XM_017004778.2:c.1164_1166delinsGAA	XP_016860267.1:p.Glu388=
NM_001363823.2:c.1257_1259delinsGAA	NP_001350752.1:p.Glu419=
NM_001363875.2:c.1161_1163delinsGAA	NP_001350804.1:p.Glu387=
NM_001377959.1:c.1164_1166delinsGAA	NP_001364888.1:p.Glu388=
NM_014946.4:c.1260_1262delinsGAA MANE Select	NP_055761.2:p.Glu420=
NM_199436.2:c.1164_1166delinsGAA	NP_955468.1:p.Glu388=