Canonical Allele Identifier: CA2586964667

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126988_32126997del , CM000664.2:g.32126988_32126997del	GRCh38
NC_000002.11:g.32352057_32352066del , CM000664.1:g.32352057_32352066del	GRCh37
NC_000002.10:g.32205561_32205570del	NCBI36
NG_008730.1:g.68378_68387del , LRG_714:g.68378_68387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*799_*808del	ENSP00000515816.1:n.*799_*808del
ENST00000315285.9:c.1139_1148del MANE Select	ENSP00000320885.3:p.Leu380HisfsTer13
ENST00000621856.2:c.1136_1145del	ENSP00000482496.2:p.Leu379HisfsTer13
ENST00000642281.1:c.983-9575_983-9566del
ENST00000642455.1:c.1040_1049del	ENSP00000493827.1:p.Leu347HisfsTer13
ENST00000642751.1:c.913_922del
ENST00000642999.1:c.881_890del	ENSP00000496589.1:p.Leu294HisfsTer13
ENST00000643327.1:c.298_307del
ENST00000643334.1:c.719_728del
ENST00000644408.1:c.1015_1024del
ENST00000644954.1:c.785_794del	ENSP00000494312.1:p.Leu262HisfsTer13
ENST00000645159.1:n.491_500del
ENST00000645550.1:n.352_361del
ENST00000645671.1:c.589_598del
ENST00000645730.1:c.486_495del
ENST00000646082.1:c.785_794del
ENST00000646571.1:c.1043_1052del	ENSP00000495015.1:p.Leu348HisfsTer13
ENST00000647007.1:n.831_840del
ENST00000647133.1:c.674-1420_674-1411del
ENST00000315285.7:c.1139_1148del	ENSP00000320885.3:p.Leu380HisfsTer13
ENST00000345662.5:c.1043_1052del	ENSP00000340817.1:p.Leu348HisfsTer13
ENST00000615843.4:c.1139_1148del	ENSP00000480893.1:p.Leu380HisfsTer13
ENST00000621856.1:c.881_890del	ENSP00000482496.1:p.Leu294HisfsTer13
NM_014946.3:c.1139_1148del , LRG_714t1:c.1139_1148del	NP_055761.2:p.Leu380HisfsTer13
NM_199436.1:c.1043_1052del	NP_955468.1:p.Leu348HisfsTer13
XM_005264516.3:c.1136_1145del	XP_005264573.1:p.Leu379HisfsTer13
XM_011533067.1:c.1139_1148del	XP_011531369.1:p.Leu380HisfsTer13
NM_001363823.1:c.1136_1145del	NP_001350752.1:p.Leu379HisfsTer13
NM_001363875.1:c.1040_1049del	NP_001350804.1:p.Leu347HisfsTer13
XM_005264516.5:c.1136_1145del	XP_005264573.1:p.Leu379HisfsTer13
XM_011533067.2:c.1139_1148del	XP_011531369.1:p.Leu380HisfsTer13
XM_017004778.2:c.1043_1052del	XP_016860267.1:p.Leu348HisfsTer13
NM_001363823.2:c.1136_1145del	NP_001350752.1:p.Leu379HisfsTer13
NM_001363875.2:c.1040_1049del	NP_001350804.1:p.Leu347HisfsTer13
NM_001377959.1:c.1043_1052del	NP_001364888.1:p.Leu348HisfsTer13
NM_014946.4:c.1139_1148del MANE Select	NP_055761.2:p.Leu380HisfsTer13
NM_199436.2:c.1043_1052del	NP_955468.1:p.Leu348HisfsTer13