Canonical Allele Identifier: CA2586964740

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136587_32136588dup , CM000664.2:g.32136587_32136588dup	GRCh38
NC_000002.11:g.32361656_32361657dup , CM000664.1:g.32361656_32361657dup	GRCh37
NC_000002.10:g.32215160_32215161dup	NCBI36
NG_008730.1:g.77977_77978dup , LRG_714:g.77977_77978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*930_*931dup	ENSP00000515816.1:n.*930_*931dup
ENST00000315285.9:c.1270_1271dup MANE Select	ENSP00000320885.3:p.Ala425GlyfsTer14
ENST00000621856.2:c.1267_1268dup	ENSP00000482496.2:p.Ala424GlyfsTer14
ENST00000642281.1:c.1007_1008dup
ENST00000642455.1:c.1171_1172dup	ENSP00000493827.1:p.Ala392GlyfsTer14
ENST00000642751.1:c.1044_1045dup
ENST00000642999.1:c.1012_1013dup	ENSP00000496589.1:p.Ala339GlyfsTer14
ENST00000643327.1:c.429_430dup
ENST00000643334.1:c.850_851dup
ENST00000644408.1:c.1146_1147dup
ENST00000644954.1:c.916_917dup	ENSP00000494312.1:p.Ala307GlyfsTer14
ENST00000645159.1:n.2007_2008dup
ENST00000645671.1:c.720_721dup
ENST00000645730.1:c.593-522_593-521dup
ENST00000646082.1:c.916_917dup
ENST00000646571.1:c.1174_1175dup	ENSP00000495015.1:p.Ala393GlyfsTer14
ENST00000647007.1:n.962_963dup
ENST00000647133.1:c.770_771dup
ENST00000315285.7:c.1270_1271dup	ENSP00000320885.3:p.Ala425GlyfsTer14
ENST00000345662.5:c.1174_1175dup	ENSP00000340817.1:p.Ala393GlyfsTer14
ENST00000615843.4:c.1270_1271dup	ENSP00000480893.1:p.Ala425GlyfsTer14
ENST00000621856.1:c.1012_1013dup	ENSP00000482496.1:p.Ala339GlyfsTer14
NM_014946.3:c.1270_1271dup , LRG_714t1:c.1270_1271dup	NP_055761.2:p.Ala425GlyfsTer14
NM_199436.1:c.1174_1175dup	NP_955468.1:p.Ala393GlyfsTer14
XM_005264516.3:c.1267_1268dup	XP_005264573.1:p.Ala424GlyfsTer14
XM_011533067.1:c.1270_1271dup	XP_011531369.1:p.Ala425GlyfsTer14
NM_001363823.1:c.1267_1268dup	NP_001350752.1:p.Ala424GlyfsTer14
NM_001363875.1:c.1171_1172dup	NP_001350804.1:p.Ala392GlyfsTer14
XM_005264516.5:c.1267_1268dup	XP_005264573.1:p.Ala424GlyfsTer14
XM_011533067.2:c.1270_1271dup	XP_011531369.1:p.Ala425GlyfsTer14
XM_017004778.2:c.1174_1175dup	XP_016860267.1:p.Ala393GlyfsTer14
NM_001363823.2:c.1267_1268dup	NP_001350752.1:p.Ala424GlyfsTer14
NM_001363875.2:c.1171_1172dup	NP_001350804.1:p.Ala392GlyfsTer14
NM_001377959.1:c.1174_1175dup	NP_001364888.1:p.Ala393GlyfsTer14
NM_014946.4:c.1270_1271dup MANE Select	NP_055761.2:p.Ala425GlyfsTer14
NM_199436.2:c.1174_1175dup	NP_955468.1:p.Ala393GlyfsTer14