Canonical Allele Identifier: CA658795707

Gene: SPAST

Linked Data

• ClinVar Variation Id: 521727
• ClinVar RCV Id: RCV000622527 ; RCV001232194 ; RCV001268888
• dbSNP Id: rs1553317028
• MyVariant Identifiers: chr2:g.32353512_32353514del (hg19) ; chr2:g.32128443_32128445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128443_32128445del , CM000664.2:g.32128443_32128445del	GRCh38
NC_000002.11:g.32353512_32353514del , CM000664.1:g.32353512_32353514del	GRCh37
NC_000002.10:g.32207016_32207018del	NCBI36
NG_008730.1:g.69833_69835del , LRG_714:g.69833_69835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*869_*871del	ENSP00000515816.1:n.*869_*871del
ENST00000315285.9:c.1209_1211del MANE Select	ENSP00000320885.3:p.Phe404del
ENST00000621856.2:c.1206_1208del	ENSP00000482496.2:p.Phe403del
ENST00000642281.1:c.983-8120_983-8118del
ENST00000642455.1:c.1110_1112del	ENSP00000493827.1:p.Phe371del
ENST00000642751.1:c.983_985del
ENST00000642999.1:c.951_953del	ENSP00000496589.1:p.Phe318del
ENST00000643327.1:c.368_370del
ENST00000643334.1:c.789_791del
ENST00000644408.1:c.1085_1087del
ENST00000644954.1:c.855_857del	ENSP00000494312.1:p.Phe286del
ENST00000645159.1:n.1946_1948del
ENST00000645550.1:n.422_424del
ENST00000645671.1:c.659_661del
ENST00000645730.1:c.556_558del
ENST00000646082.1:c.855_857del
ENST00000646571.1:c.1113_1115del	ENSP00000495015.1:p.Phe372del
ENST00000647007.1:n.901_903del
ENST00000647133.1:c.709_711del
ENST00000315285.7:c.1209_1211del	ENSP00000320885.3:p.Phe404del
ENST00000345662.5:c.1113_1115del	ENSP00000340817.1:p.Phe372del
ENST00000615843.4:c.1209_1211del	ENSP00000480893.1:p.Phe404del
ENST00000621856.1:c.951_953del	ENSP00000482496.1:p.Phe318del
NM_014946.3:c.1209_1211del , LRG_714t1:c.1209_1211del	NP_055761.2:p.Phe404del
NM_199436.1:c.1113_1115del	NP_955468.1:p.Phe372del
XM_005264516.3:c.1206_1208del	XP_005264573.1:p.Phe403del
XM_011533067.1:c.1209_1211del	XP_011531369.1:p.Phe404del
NM_001363823.1:c.1206_1208del	NP_001350752.1:p.Phe403del
NM_001363875.1:c.1110_1112del	NP_001350804.1:p.Phe371del
XM_005264516.5:c.1206_1208del	XP_005264573.1:p.Phe403del
XM_011533067.2:c.1209_1211del	XP_011531369.1:p.Phe404del
XM_017004778.2:c.1113_1115del	XP_016860267.1:p.Phe372del
NM_001363823.2:c.1206_1208del	NP_001350752.1:p.Phe403del
NM_001363875.2:c.1110_1112del	NP_001350804.1:p.Phe371del
NM_001377959.1:c.1113_1115del	NP_001364888.1:p.Phe372del
NM_014946.4:c.1209_1211del MANE Select	NP_055761.2:p.Phe404del
NM_199436.2:c.1113_1115del	NP_955468.1:p.Phe372del