Canonical Allele Identifier: CA2573134598

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1360426
• ClinVar RCV Id: RCV001904887
• dbSNP Id: rs2148685545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064043del , CM000664.2:g.32064043del	GRCh38
NC_000002.11:g.32289112del , CM000664.1:g.32289112del	GRCh37
NC_000002.10:g.32142616del	NCBI36
NG_008730.1:g.5433del , LRG_714:g.5433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.212del	ENSP00000515816.1:p.Leu71ArgfsTer?
ENST00000315285.9:c.212del MANE Select	ENSP00000320885.3:p.Leu71ArgfsTer?
ENST00000621856.2:c.212del	ENSP00000482496.2:p.Leu71ArgfsTer?
ENST00000642281.1:c.96del
ENST00000642455.1:c.212del	ENSP00000493827.1:p.Leu71ArgfsTer?
ENST00000642751.1:c.82del
ENST00000642999.1:c.-47del	ENSP00000496589.1:n.-47del
ENST00000644408.1:c.88del
ENST00000644954.1:c.-47del	ENSP00000494312.1:n.-47del
ENST00000645400.1:c.53del	ENSP00000496306.1:p.Leu18ArgfsTer?
ENST00000646082.1:c.46del
ENST00000646571.1:c.212del	ENSP00000495015.1:p.Leu71ArgfsTer?
ENST00000315285.7:c.212del	ENSP00000320885.3:p.Leu71ArgfsTer?
ENST00000345662.5:c.212del	ENSP00000340817.1:p.Leu71ArgfsTer?
ENST00000615843.4:c.212del	ENSP00000480893.1:p.Leu71ArgfsTer?
ENST00000621856.1:c.-47del	ENSP00000482496.1:n.-47del
NM_014946.3:c.212del , LRG_714t1:c.212del	NP_055761.2:p.Leu71ArgfsTer?
NM_199436.1:c.212del	NP_955468.1:p.Leu71ArgfsTer?
XM_005264516.3:c.212del	XP_005264573.1:p.Leu71ArgfsTer?
XM_011533067.1:c.212del	XP_011531369.1:p.Leu71ArgfsTer?
NM_001363823.1:c.212del	NP_001350752.1:p.Leu71ArgfsTer?
NM_001363875.1:c.212del	NP_001350804.1:p.Leu71ArgfsTer?
XM_005264516.5:c.212del	XP_005264573.1:p.Leu71ArgfsTer?
XM_011533067.2:c.212del	XP_011531369.1:p.Leu71ArgfsTer?
XM_017004778.2:c.212del	XP_016860267.1:p.Leu71ArgfsTer?
NM_001363823.2:c.212del	NP_001350752.1:p.Leu71ArgfsTer?
NM_001363875.2:c.212del	NP_001350804.1:p.Leu71ArgfsTer?
NM_001377959.1:c.212del	NP_001364888.1:p.Leu71ArgfsTer?
NM_014946.4:c.212del MANE Select	NP_055761.2:p.Leu71ArgfsTer?
NM_199436.2:c.212del	NP_955468.1:p.Leu71ArgfsTer?