Canonical Allele Identifier: CA915940736

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1013407
• ClinVar RCV Id: RCV001311915 ; RCV002225131
• dbSNP Id: rs1679265391

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128444_32128446del , CM000664.2:g.32128444_32128446del	GRCh38
NC_000002.11:g.32353513_32353515del , CM000664.1:g.32353513_32353515del	GRCh37
NC_000002.10:g.32207017_32207019del	NCBI36
NG_008730.1:g.69834_69836del , LRG_714:g.69834_69836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*870_*872del	ENSP00000515816.1:n.*870_*872del
ENST00000315285.9:c.1210_1212del MANE Select	ENSP00000320885.3:p.Phe404del
ENST00000621856.2:c.1207_1209del	ENSP00000482496.2:p.Phe403del
ENST00000642281.1:c.983-8119_983-8117del
ENST00000642455.1:c.1111_1113del	ENSP00000493827.1:p.Phe371del
ENST00000642751.1:c.984_986del
ENST00000642999.1:c.952_954del	ENSP00000496589.1:p.Phe318del
ENST00000643327.1:c.369_371del
ENST00000643334.1:c.790_792del
ENST00000644408.1:c.1086_1088del
ENST00000644954.1:c.856_858del	ENSP00000494312.1:p.Phe286del
ENST00000645159.1:n.1947_1949del
ENST00000645550.1:n.423_425del
ENST00000645671.1:c.660_662del
ENST00000645730.1:c.557_559del
ENST00000646082.1:c.856_858del
ENST00000646571.1:c.1114_1116del	ENSP00000495015.1:p.Phe372del
ENST00000647007.1:n.902_904del
ENST00000647133.1:c.710_712del
ENST00000315285.7:c.1210_1212del	ENSP00000320885.3:p.Phe404del
ENST00000345662.5:c.1114_1116del	ENSP00000340817.1:p.Phe372del
ENST00000615843.4:c.1210_1212del	ENSP00000480893.1:p.Phe404del
ENST00000621856.1:c.952_954del	ENSP00000482496.1:p.Phe318del
NM_014946.3:c.1210_1212del , LRG_714t1:c.1210_1212del	NP_055761.2:p.Phe404del
NM_199436.1:c.1114_1116del	NP_955468.1:p.Phe372del
XM_005264516.3:c.1207_1209del	XP_005264573.1:p.Phe403del
XM_011533067.1:c.1210_1212del	XP_011531369.1:p.Phe404del
NM_001363823.1:c.1207_1209del	NP_001350752.1:p.Phe403del
NM_001363875.1:c.1111_1113del	NP_001350804.1:p.Phe371del
XM_005264516.5:c.1207_1209del	XP_005264573.1:p.Phe403del
XM_011533067.2:c.1210_1212del	XP_011531369.1:p.Phe404del
XM_017004778.2:c.1114_1116del	XP_016860267.1:p.Phe372del
NM_001363823.2:c.1207_1209del	NP_001350752.1:p.Phe403del
NM_001363875.2:c.1111_1113del	NP_001350804.1:p.Phe371del
NM_001377959.1:c.1114_1116del	NP_001364888.1:p.Phe372del
NM_014946.4:c.1210_1212del MANE Select	NP_055761.2:p.Phe404del
NM_199436.2:c.1114_1116del	NP_955468.1:p.Phe372del