Canonical Allele Identifier: CA2586964663

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126985dup , CM000664.2:g.32126985dup	GRCh38
NC_000002.11:g.32352054dup , CM000664.1:g.32352054dup	GRCh37
NC_000002.10:g.32205558dup	NCBI36
NG_008730.1:g.68375dup , LRG_714:g.68375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*796dup	ENSP00000515816.1:n.*796dup
ENST00000315285.9:c.1136dup MANE Select	ENSP00000320885.3:p.Leu379PhefsTer15
ENST00000621856.2:c.1133dup	ENSP00000482496.2:p.Leu378PhefsTer15
ENST00000642281.1:c.983-9578dup
ENST00000642455.1:c.1037dup	ENSP00000493827.1:p.Leu346PhefsTer15
ENST00000642751.1:c.910dup
ENST00000642999.1:c.878dup	ENSP00000496589.1:p.Leu293PhefsTer15
ENST00000643327.1:c.295dup
ENST00000643334.1:c.716dup
ENST00000644408.1:c.1012dup
ENST00000644954.1:c.782dup	ENSP00000494312.1:p.Leu261PhefsTer15
ENST00000645159.1:n.488dup
ENST00000645550.1:n.349dup
ENST00000645671.1:c.586dup
ENST00000645730.1:c.483dup
ENST00000646082.1:c.782dup
ENST00000646571.1:c.1040dup	ENSP00000495015.1:p.Leu347PhefsTer15
ENST00000647007.1:n.828dup
ENST00000647133.1:c.674-1423dup
ENST00000315285.7:c.1136dup	ENSP00000320885.3:p.Leu379PhefsTer15
ENST00000345662.5:c.1040dup	ENSP00000340817.1:p.Leu347PhefsTer15
ENST00000615843.4:c.1136dup	ENSP00000480893.1:p.Leu379PhefsTer15
ENST00000621856.1:c.878dup	ENSP00000482496.1:p.Leu293PhefsTer15
NM_014946.3:c.1136dup , LRG_714t1:c.1136dup	NP_055761.2:p.Leu379PhefsTer15
NM_199436.1:c.1040dup	NP_955468.1:p.Leu347PhefsTer15
XM_005264516.3:c.1133dup	XP_005264573.1:p.Leu378PhefsTer15
XM_011533067.1:c.1136dup	XP_011531369.1:p.Leu379PhefsTer15
NM_001363823.1:c.1133dup	NP_001350752.1:p.Leu378PhefsTer15
NM_001363875.1:c.1037dup	NP_001350804.1:p.Leu346PhefsTer15
XM_005264516.5:c.1133dup	XP_005264573.1:p.Leu378PhefsTer15
XM_011533067.2:c.1136dup	XP_011531369.1:p.Leu379PhefsTer15
XM_017004778.2:c.1040dup	XP_016860267.1:p.Leu347PhefsTer15
NM_001363823.2:c.1133dup	NP_001350752.1:p.Leu378PhefsTer15
NM_001363875.2:c.1037dup	NP_001350804.1:p.Leu346PhefsTer15
NM_001377959.1:c.1040dup	NP_001364888.1:p.Leu347PhefsTer15
NM_014946.4:c.1136dup MANE Select	NP_055761.2:p.Leu379PhefsTer15
NM_199436.2:c.1040dup	NP_955468.1:p.Leu347PhefsTer15