Canonical Allele Identifier: CA645526458

Gene: SPAST

Linked Data

• COSMIC: COSM5047225

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128417_32128418del , CM000664.2:g.32128417_32128418del	GRCh38
NC_000002.11:g.32353486_32353487del , CM000664.1:g.32353486_32353487del	GRCh37
NC_000002.10:g.32206990_32206991del	NCBI36
NG_008730.1:g.69807_69808del , LRG_714:g.69807_69808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*843_*844del	ENSP00000515816.1:n.*843_*844del
ENST00000315285.9:c.1183_1184del MANE Select	ENSP00000320885.3:p.Val395SerfsTer10
ENST00000621856.2:c.1180_1181del	ENSP00000482496.2:p.Val394SerfsTer10
ENST00000642281.1:c.983-8146_983-8145del
ENST00000642455.1:c.1084_1085del	ENSP00000493827.1:p.Val362SerfsTer10
ENST00000642751.1:c.957_958del
ENST00000642999.1:c.925_926del	ENSP00000496589.1:p.Val309SerfsTer10
ENST00000643327.1:c.342_343del
ENST00000643334.1:c.763_764del
ENST00000644408.1:c.1059_1060del
ENST00000644954.1:c.829_830del	ENSP00000494312.1:p.Val277SerfsTer10
ENST00000645159.1:n.1920_1921del
ENST00000645550.1:n.396_397del
ENST00000645671.1:c.633_634del
ENST00000645730.1:c.530_531del
ENST00000646082.1:c.829_830del
ENST00000646571.1:c.1087_1088del	ENSP00000495015.1:p.Val363SerfsTer10
ENST00000647007.1:n.875_876del
ENST00000647133.1:c.683_684del
ENST00000315285.7:c.1183_1184del	ENSP00000320885.3:p.Val395SerfsTer10
ENST00000345662.5:c.1087_1088del	ENSP00000340817.1:p.Val363SerfsTer10
ENST00000615843.4:c.1183_1184del	ENSP00000480893.1:p.Val395SerfsTer10
ENST00000621856.1:c.925_926del	ENSP00000482496.1:p.Val309SerfsTer10
NM_014946.3:c.1183_1184del , LRG_714t1:c.1183_1184del	NP_055761.2:p.Val395SerfsTer10
NM_199436.1:c.1087_1088del	NP_955468.1:p.Val363SerfsTer10
XM_005264516.3:c.1180_1181del	XP_005264573.1:p.Val394SerfsTer10
XM_011533067.1:c.1183_1184del	XP_011531369.1:p.Val395SerfsTer10
NM_001363823.1:c.1180_1181del	NP_001350752.1:p.Val394SerfsTer10
NM_001363875.1:c.1084_1085del	NP_001350804.1:p.Val362SerfsTer10
XM_005264516.5:c.1180_1181del	XP_005264573.1:p.Val394SerfsTer10
XM_011533067.2:c.1183_1184del	XP_011531369.1:p.Val395SerfsTer10
XM_017004778.2:c.1087_1088del	XP_016860267.1:p.Val363SerfsTer10
NM_001363823.2:c.1180_1181del	NP_001350752.1:p.Val394SerfsTer10
NM_001363875.2:c.1084_1085del	NP_001350804.1:p.Val362SerfsTer10
NM_001377959.1:c.1087_1088del	NP_001364888.1:p.Val363SerfsTer10
NM_014946.4:c.1183_1184del MANE Select	NP_055761.2:p.Val395SerfsTer10
NM_199436.2:c.1087_1088del	NP_955468.1:p.Val363SerfsTer10