Canonical Allele Identifier: CA2586964687

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127012del , CM000664.2:g.32127012del	GRCh38
NC_000002.11:g.32352081del , CM000664.1:g.32352081del	GRCh37
NC_000002.10:g.32205585del	NCBI36
NG_008730.1:g.68402del , LRG_714:g.68402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*823del	ENSP00000515816.1:n.*823del
ENST00000315285.9:c.1163del MANE Select	ENSP00000320885.3:p.Lys388ArgfsTer8
ENST00000621856.2:c.1160del	ENSP00000482496.2:p.Lys387ArgfsTer8
ENST00000642281.1:c.983-9551del
ENST00000642455.1:c.1064del	ENSP00000493827.1:p.Lys355ArgfsTer8
ENST00000642751.1:c.937del
ENST00000642999.1:c.905del	ENSP00000496589.1:p.Lys302ArgfsTer8
ENST00000643327.1:c.322del
ENST00000643334.1:c.743del
ENST00000644408.1:c.1039del
ENST00000644954.1:c.809del	ENSP00000494312.1:p.Lys270ArgfsTer8
ENST00000645159.1:n.515del
ENST00000645550.1:n.376del
ENST00000645671.1:c.613del
ENST00000645730.1:c.510del
ENST00000646082.1:c.809del
ENST00000646571.1:c.1067del	ENSP00000495015.1:p.Lys356ArgfsTer8
ENST00000647007.1:n.855del
ENST00000647133.1:c.674-1396del
ENST00000315285.7:c.1163del	ENSP00000320885.3:p.Lys388ArgfsTer8
ENST00000345662.5:c.1067del	ENSP00000340817.1:p.Lys356ArgfsTer8
ENST00000615843.4:c.1163del	ENSP00000480893.1:p.Lys388ArgfsTer8
ENST00000621856.1:c.905del	ENSP00000482496.1:p.Lys302ArgfsTer8
NM_014946.3:c.1163del , LRG_714t1:c.1163del	NP_055761.2:p.Lys388ArgfsTer8
NM_199436.1:c.1067del	NP_955468.1:p.Lys356ArgfsTer8
XM_005264516.3:c.1160del	XP_005264573.1:p.Lys387ArgfsTer8
XM_011533067.1:c.1163del	XP_011531369.1:p.Lys388ArgfsTer8
NM_001363823.1:c.1160del	NP_001350752.1:p.Lys387ArgfsTer8
NM_001363875.1:c.1064del	NP_001350804.1:p.Lys355ArgfsTer8
XM_005264516.5:c.1160del	XP_005264573.1:p.Lys387ArgfsTer8
XM_011533067.2:c.1163del	XP_011531369.1:p.Lys388ArgfsTer8
XM_017004778.2:c.1067del	XP_016860267.1:p.Lys356ArgfsTer8
NM_001363823.2:c.1160del	NP_001350752.1:p.Lys387ArgfsTer8
NM_001363875.2:c.1064del	NP_001350804.1:p.Lys355ArgfsTer8
NM_001377959.1:c.1067del	NP_001364888.1:p.Lys356ArgfsTer8
NM_014946.4:c.1163del MANE Select	NP_055761.2:p.Lys388ArgfsTer8
NM_199436.2:c.1067del	NP_955468.1:p.Lys356ArgfsTer8