Canonical Allele Identifier: CA658657022

Gene: SPAST

Linked Data

• ClinVar Variation Id: 448441
• ClinVar RCV Id: RCV000516819
• dbSNP Id: rs1553316843
• MyVariant Identifiers: chr2:g.32352085_32352086del (hg19) ; chr2:g.32127016_32127017del (hg38)
• PubMed: PMID:14656074

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127016_32127017del , CM000664.2:g.32127016_32127017del	GRCh38
NC_000002.11:g.32352085_32352086del , CM000664.1:g.32352085_32352086del	GRCh37
NC_000002.10:g.32205589_32205590del	NCBI36
NG_008730.1:g.68406_68407del , LRG_714:g.68406_68407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*827_*828del	ENSP00000515816.1:n.*827_*828del
ENST00000315285.9:c.1167_1168del MANE Select	ENSP00000320885.3:p.Met390AlafsTer3
ENST00000621856.2:c.1164_1165del	ENSP00000482496.2:p.Met389AlafsTer3
ENST00000642281.1:c.983-9547_983-9546del
ENST00000642455.1:c.1068_1069del	ENSP00000493827.1:p.Met357AlafsTer3
ENST00000642751.1:c.941_942del
ENST00000642999.1:c.909_910del	ENSP00000496589.1:p.Met304AlafsTer3
ENST00000643327.1:c.326_327del
ENST00000643334.1:c.747_748del
ENST00000644408.1:c.1043_1044del
ENST00000644954.1:c.813_814del	ENSP00000494312.1:p.Met272AlafsTer3
ENST00000645159.1:n.519_520del
ENST00000645550.1:n.380_381del
ENST00000645671.1:c.617_618del
ENST00000645730.1:c.514_515del
ENST00000646082.1:c.813_814del
ENST00000646571.1:c.1071_1072del	ENSP00000495015.1:p.Met358AlafsTer3
ENST00000647007.1:n.859_860del
ENST00000647133.1:c.674-1392_674-1391del
ENST00000315285.7:c.1167_1168del	ENSP00000320885.3:p.Met390AlafsTer3
ENST00000345662.5:c.1071_1072del	ENSP00000340817.1:p.Met358AlafsTer3
ENST00000615843.4:c.1167_1168del	ENSP00000480893.1:p.Met390AlafsTer3
ENST00000621856.1:c.909_910del	ENSP00000482496.1:p.Met304AlafsTer3
NM_014946.3:c.1167_1168del , LRG_714t1:c.1167_1168del	NP_055761.2:p.Met390AlafsTer3
NM_199436.1:c.1071_1072del	NP_955468.1:p.Met358AlafsTer3
XM_005264516.3:c.1164_1165del	XP_005264573.1:p.Met389AlafsTer3
XM_011533067.1:c.1167_1168del	XP_011531369.1:p.Met390AlafsTer3
NM_001363823.1:c.1164_1165del	NP_001350752.1:p.Met389AlafsTer3
NM_001363875.1:c.1068_1069del	NP_001350804.1:p.Met357AlafsTer3
XM_005264516.5:c.1164_1165del	XP_005264573.1:p.Met389AlafsTer3
XM_011533067.2:c.1167_1168del	XP_011531369.1:p.Met390AlafsTer3
XM_017004778.2:c.1071_1072del	XP_016860267.1:p.Met358AlafsTer3
NM_001363823.2:c.1164_1165del	NP_001350752.1:p.Met389AlafsTer3
NM_001363875.2:c.1068_1069del	NP_001350804.1:p.Met357AlafsTer3
NM_001377959.1:c.1071_1072del	NP_001364888.1:p.Met358AlafsTer3
NM_014946.4:c.1167_1168del MANE Select	NP_055761.2:p.Met390AlafsTer3
NM_199436.2:c.1071_1072del	NP_955468.1:p.Met358AlafsTer3