Canonical Allele Identifier: CA2586964710

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128411_32128422del , CM000664.2:g.32128411_32128422del	GRCh38
NC_000002.11:g.32353480_32353491del , CM000664.1:g.32353480_32353491del	GRCh37
NC_000002.10:g.32206984_32206995del	NCBI36
NG_008730.1:g.69801_69812del , LRG_714:g.69801_69812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*837_*848del	ENSP00000515816.1:n.*837_*848del
ENST00000315285.9:c.1177_1188del MANE Select	ENSP00000320885.3:p.Lys393_Ala396del
ENST00000621856.2:c.1174_1185del	ENSP00000482496.2:p.Lys392_Ala395del
ENST00000642281.1:c.983-8152_983-8141del
ENST00000642455.1:c.1078_1089del	ENSP00000493827.1:p.Lys360_Ala363del
ENST00000642751.1:c.951_962del
ENST00000642999.1:c.919_930del	ENSP00000496589.1:p.Lys307_Ala310del
ENST00000643327.1:c.336_347del
ENST00000643334.1:c.757_768del
ENST00000644408.1:c.1053_1064del
ENST00000644954.1:c.823_834del	ENSP00000494312.1:p.Lys275_Ala278del
ENST00000645159.1:n.1914_1925del
ENST00000645550.1:n.390_401del
ENST00000645671.1:c.627_638del
ENST00000645730.1:c.524_535del
ENST00000646082.1:c.823_834del
ENST00000646571.1:c.1081_1092del	ENSP00000495015.1:p.Lys361_Ala364del
ENST00000647007.1:n.869_880del
ENST00000647133.1:c.677_688del
ENST00000315285.7:c.1177_1188del	ENSP00000320885.3:p.Lys393_Ala396del
ENST00000345662.5:c.1081_1092del	ENSP00000340817.1:p.Lys361_Ala364del
ENST00000615843.4:c.1177_1188del	ENSP00000480893.1:p.Lys393_Ala396del
ENST00000621856.1:c.919_930del	ENSP00000482496.1:p.Lys307_Ala310del
NM_014946.3:c.1177_1188del , LRG_714t1:c.1177_1188del	NP_055761.2:p.Lys393_Ala396del
NM_199436.1:c.1081_1092del	NP_955468.1:p.Lys361_Ala364del
XM_005264516.3:c.1174_1185del	XP_005264573.1:p.Lys392_Ala395del
XM_011533067.1:c.1177_1188del	XP_011531369.1:p.Lys393_Ala396del
NM_001363823.1:c.1174_1185del	NP_001350752.1:p.Lys392_Ala395del
NM_001363875.1:c.1078_1089del	NP_001350804.1:p.Lys360_Ala363del
XM_005264516.5:c.1174_1185del	XP_005264573.1:p.Lys392_Ala395del
XM_011533067.2:c.1177_1188del	XP_011531369.1:p.Lys393_Ala396del
XM_017004778.2:c.1081_1092del	XP_016860267.1:p.Lys361_Ala364del
NM_001363823.2:c.1174_1185del	NP_001350752.1:p.Lys392_Ala395del
NM_001363875.2:c.1078_1089del	NP_001350804.1:p.Lys360_Ala363del
NM_001377959.1:c.1081_1092del	NP_001364888.1:p.Lys361_Ala364del
NM_014946.4:c.1177_1188del MANE Select	NP_055761.2:p.Lys393_Ala396del
NM_199436.2:c.1081_1092del	NP_955468.1:p.Lys361_Ala364del