Canonical Allele Identifier: CA1139656824

Gene: SPAST

Linked Data

• ClinVar Variation Id: 947455
• ClinVar RCV Id: RCV001218540
• dbSNP Id: rs1679553611

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136894_32136895del , CM000664.2:g.32136894_32136895del	GRCh38
NC_000002.11:g.32361963_32361964del , CM000664.1:g.32361963_32361964del	GRCh37
NC_000002.10:g.32215467_32215468del	NCBI36
NG_008730.1:g.78284_78285del , LRG_714:g.78284_78285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*999_*1000del	ENSP00000515816.1:n.*999_*1000del
ENST00000315285.9:c.1339_1340del MANE Select	ENSP00000320885.3:p.Leu447ValfsTer2
ENST00000621856.2:c.1336_1337del	ENSP00000482496.2:p.Leu446ValfsTer2
ENST00000642281.1:c.1076_1077del
ENST00000642455.1:c.1240_1241del	ENSP00000493827.1:p.Leu414ValfsTer2
ENST00000642751.1:c.1113_1114del
ENST00000642999.1:c.1081_1082del	ENSP00000496589.1:p.Leu361ValfsTer2
ENST00000643327.1:c.481-215_481-214del
ENST00000643334.1:c.919_920del
ENST00000644408.1:c.1215_1216del
ENST00000644954.1:c.985_986del	ENSP00000494312.1:p.Leu329ValfsTer2
ENST00000645159.1:n.2076_2077del
ENST00000645671.1:c.789_790del
ENST00000645730.1:c.593-215_593-214del
ENST00000646082.1:c.985_986del
ENST00000646571.1:c.1243_1244del	ENSP00000495015.1:p.Leu415ValfsTer2
ENST00000647007.1:n.1031_1032del
ENST00000647133.1:c.839_840del
ENST00000315285.7:c.1339_1340del	ENSP00000320885.3:p.Leu447ValfsTer2
ENST00000345662.5:c.1243_1244del	ENSP00000340817.1:p.Leu415ValfsTer2
ENST00000615843.4:c.1339_1340del	ENSP00000480893.1:p.Leu447ValfsTer2
ENST00000621856.1:c.1081_1082del	ENSP00000482496.1:p.Leu361ValfsTer2
NM_014946.3:c.1339_1340del , LRG_714t1:c.1339_1340del	NP_055761.2:p.Leu447ValfsTer2
NM_199436.1:c.1243_1244del	NP_955468.1:p.Leu415ValfsTer2
XM_005264516.3:c.1336_1337del	XP_005264573.1:p.Leu446ValfsTer2
XM_011533067.1:c.1339_1340del	XP_011531369.1:p.Leu447ValfsTer2
NM_001363823.1:c.1336_1337del	NP_001350752.1:p.Leu446ValfsTer2
NM_001363875.1:c.1240_1241del	NP_001350804.1:p.Leu414ValfsTer2
XM_005264516.5:c.1336_1337del	XP_005264573.1:p.Leu446ValfsTer2
XM_011533067.2:c.1339_1340del	XP_011531369.1:p.Leu447ValfsTer2
XM_017004778.2:c.1243_1244del	XP_016860267.1:p.Leu415ValfsTer2
NM_001363823.2:c.1336_1337del	NP_001350752.1:p.Leu446ValfsTer2
NM_001363875.2:c.1240_1241del	NP_001350804.1:p.Leu414ValfsTer2
NM_001377959.1:c.1243_1244del	NP_001364888.1:p.Leu415ValfsTer2
NM_014946.4:c.1339_1340del MANE Select	NP_055761.2:p.Leu447ValfsTer2
NM_199436.2:c.1243_1244del	NP_955468.1:p.Leu415ValfsTer2