Canonical Allele Identifier: CA2586964744

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136599del , CM000664.2:g.32136599del	GRCh38
NC_000002.11:g.32361668del , CM000664.1:g.32361668del	GRCh37
NC_000002.10:g.32215172del	NCBI36
NG_008730.1:g.77989del , LRG_714:g.77989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*942del	ENSP00000515816.1:n.*942del
ENST00000315285.9:c.1282del MANE Select	ENSP00000320885.3:p.Ala428LeufsTer10
ENST00000621856.2:c.1279del	ENSP00000482496.2:p.Ala427LeufsTer10
ENST00000642281.1:c.1019del
ENST00000642455.1:c.1183del	ENSP00000493827.1:p.Ala395LeufsTer10
ENST00000642751.1:c.1056del
ENST00000642999.1:c.1024del	ENSP00000496589.1:p.Ala342LeufsTer10
ENST00000643327.1:c.441del
ENST00000643334.1:c.862del
ENST00000644408.1:c.1158del
ENST00000644954.1:c.928del	ENSP00000494312.1:p.Ala310LeufsTer10
ENST00000645159.1:n.2019del
ENST00000645671.1:c.732del
ENST00000645730.1:c.593-510del
ENST00000646082.1:c.928del
ENST00000646571.1:c.1186del	ENSP00000495015.1:p.Ala396LeufsTer10
ENST00000647007.1:n.974del
ENST00000647133.1:c.782del
ENST00000315285.7:c.1282del	ENSP00000320885.3:p.Ala428LeufsTer10
ENST00000345662.5:c.1186del	ENSP00000340817.1:p.Ala396LeufsTer10
ENST00000615843.4:c.1282del	ENSP00000480893.1:p.Ala428LeufsTer10
ENST00000621856.1:c.1024del	ENSP00000482496.1:p.Ala342LeufsTer10
NM_014946.3:c.1282del , LRG_714t1:c.1282del	NP_055761.2:p.Ala428LeufsTer10
NM_199436.1:c.1186del	NP_955468.1:p.Ala396LeufsTer10
XM_005264516.3:c.1279del	XP_005264573.1:p.Ala427LeufsTer10
XM_011533067.1:c.1282del	XP_011531369.1:p.Ala428LeufsTer10
NM_001363823.1:c.1279del	NP_001350752.1:p.Ala427LeufsTer10
NM_001363875.1:c.1183del	NP_001350804.1:p.Ala395LeufsTer10
XM_005264516.5:c.1279del	XP_005264573.1:p.Ala427LeufsTer10
XM_011533067.2:c.1282del	XP_011531369.1:p.Ala428LeufsTer10
XM_017004778.2:c.1186del	XP_016860267.1:p.Ala396LeufsTer10
NM_001363823.2:c.1279del	NP_001350752.1:p.Ala427LeufsTer10
NM_001363875.2:c.1183del	NP_001350804.1:p.Ala395LeufsTer10
NM_001377959.1:c.1186del	NP_001364888.1:p.Ala396LeufsTer10
NM_014946.4:c.1282del MANE Select	NP_055761.2:p.Ala428LeufsTer10
NM_199436.2:c.1186del	NP_955468.1:p.Ala396LeufsTer10