Canonical Allele Identifier: CA2586964713

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128419del , CM000664.2:g.32128419del	GRCh38
NC_000002.11:g.32353488del , CM000664.1:g.32353488del	GRCh37
NC_000002.10:g.32206992del	NCBI36
NG_008730.1:g.69809del , LRG_714:g.69809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*845del	ENSP00000515816.1:n.*845del
ENST00000315285.9:c.1185del MANE Select	ENSP00000320885.3:p.Ala396LeufsTer11
ENST00000621856.2:c.1182del	ENSP00000482496.2:p.Ala395LeufsTer11
ENST00000642281.1:c.983-8144del
ENST00000642455.1:c.1086del	ENSP00000493827.1:p.Ala363LeufsTer11
ENST00000642751.1:c.959del
ENST00000642999.1:c.927del	ENSP00000496589.1:p.Ala310LeufsTer11
ENST00000643327.1:c.344del
ENST00000643334.1:c.765del
ENST00000644408.1:c.1061del
ENST00000644954.1:c.831del	ENSP00000494312.1:p.Ala278LeufsTer11
ENST00000645159.1:n.1922del
ENST00000645550.1:n.398del
ENST00000645671.1:c.635del
ENST00000645730.1:c.532del
ENST00000646082.1:c.831del
ENST00000646571.1:c.1089del	ENSP00000495015.1:p.Ala364LeufsTer11
ENST00000647007.1:n.877del
ENST00000647133.1:c.685del
ENST00000315285.7:c.1185del	ENSP00000320885.3:p.Ala396LeufsTer11
ENST00000345662.5:c.1089del	ENSP00000340817.1:p.Ala364LeufsTer11
ENST00000615843.4:c.1185del	ENSP00000480893.1:p.Ala396LeufsTer11
ENST00000621856.1:c.927del	ENSP00000482496.1:p.Ala310LeufsTer11
NM_014946.3:c.1185del , LRG_714t1:c.1185del	NP_055761.2:p.Ala396LeufsTer11
NM_199436.1:c.1089del	NP_955468.1:p.Ala364LeufsTer11
XM_005264516.3:c.1182del	XP_005264573.1:p.Ala395LeufsTer11
XM_011533067.1:c.1185del	XP_011531369.1:p.Ala396LeufsTer11
NM_001363823.1:c.1182del	NP_001350752.1:p.Ala395LeufsTer11
NM_001363875.1:c.1086del	NP_001350804.1:p.Ala363LeufsTer11
XM_005264516.5:c.1182del	XP_005264573.1:p.Ala395LeufsTer11
XM_011533067.2:c.1185del	XP_011531369.1:p.Ala396LeufsTer11
XM_017004778.2:c.1089del	XP_016860267.1:p.Ala364LeufsTer11
NM_001363823.2:c.1182del	NP_001350752.1:p.Ala395LeufsTer11
NM_001363875.2:c.1086del	NP_001350804.1:p.Ala363LeufsTer11
NM_001377959.1:c.1089del	NP_001364888.1:p.Ala364LeufsTer11
NM_014946.4:c.1185del MANE Select	NP_055761.2:p.Ala396LeufsTer11
NM_199436.2:c.1089del	NP_955468.1:p.Ala364LeufsTer11