Canonical Allele Identifier: CA2586964755

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136895del , CM000664.2:g.32136895del	GRCh38
NC_000002.11:g.32361964del , CM000664.1:g.32361964del	GRCh37
NC_000002.10:g.32215468del	NCBI36
NG_008730.1:g.78285del , LRG_714:g.78285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1000del	ENSP00000515816.1:n.*1000del
ENST00000315285.9:c.1340del MANE Select	ENSP00000320885.3:p.Leu447CysfsTer15
ENST00000621856.2:c.1337del	ENSP00000482496.2:p.Leu446CysfsTer15
ENST00000642281.1:c.1077del
ENST00000642455.1:c.1241del	ENSP00000493827.1:p.Leu414CysfsTer15
ENST00000642751.1:c.1114del
ENST00000642999.1:c.1082del	ENSP00000496589.1:p.Leu361CysfsTer15
ENST00000643327.1:c.481-214del
ENST00000643334.1:c.920del
ENST00000644408.1:c.1216del
ENST00000644954.1:c.986del	ENSP00000494312.1:p.Leu329CysfsTer15
ENST00000645159.1:n.2077del
ENST00000645671.1:c.790del
ENST00000645730.1:c.593-214del
ENST00000646082.1:c.986del
ENST00000646571.1:c.1244del	ENSP00000495015.1:p.Leu415CysfsTer15
ENST00000647007.1:n.1032del
ENST00000647133.1:c.840del
ENST00000315285.7:c.1340del	ENSP00000320885.3:p.Leu447CysfsTer15
ENST00000345662.5:c.1244del	ENSP00000340817.1:p.Leu415CysfsTer15
ENST00000615843.4:c.1340del	ENSP00000480893.1:p.Leu447CysfsTer15
ENST00000621856.1:c.1082del	ENSP00000482496.1:p.Leu361CysfsTer15
NM_014946.3:c.1340del , LRG_714t1:c.1340del	NP_055761.2:p.Leu447CysfsTer15
NM_199436.1:c.1244del	NP_955468.1:p.Leu415CysfsTer15
XM_005264516.3:c.1337del	XP_005264573.1:p.Leu446CysfsTer15
XM_011533067.1:c.1340del	XP_011531369.1:p.Leu447CysfsTer15
NM_001363823.1:c.1337del	NP_001350752.1:p.Leu446CysfsTer15
NM_001363875.1:c.1241del	NP_001350804.1:p.Leu414CysfsTer15
XM_005264516.5:c.1337del	XP_005264573.1:p.Leu446CysfsTer15
XM_011533067.2:c.1340del	XP_011531369.1:p.Leu447CysfsTer15
XM_017004778.2:c.1244del	XP_016860267.1:p.Leu415CysfsTer15
NM_001363823.2:c.1337del	NP_001350752.1:p.Leu446CysfsTer15
NM_001363875.2:c.1241del	NP_001350804.1:p.Leu414CysfsTer15
NM_001377959.1:c.1244del	NP_001364888.1:p.Leu415CysfsTer15
NM_014946.4:c.1340del MANE Select	NP_055761.2:p.Leu447CysfsTer15
NM_199436.2:c.1244del	NP_955468.1:p.Leu415CysfsTer15