Canonical Allele Identifier: CA2573051929

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344064
• ClinVar RCV Id: RCV001848167
• dbSNP Id: rs2148685859

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064222_32064223insGGT , CM000664.2:g.32064222_32064223insGGT	GRCh38
NC_000002.11:g.32289291_32289292insGGT , CM000664.1:g.32289291_32289292insGGT	GRCh37
NC_000002.10:g.32142795_32142796insGGT	NCBI36
NG_008730.1:g.5612_5613insGGT , LRG_714:g.5612_5613insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.391_392insGGT	ENSP00000515816.1:p.Ala130_Leu131insArg
ENST00000315285.9:c.391_392insGGT MANE Select	ENSP00000320885.3:p.Ala130_Leu131insArg
ENST00000621856.2:c.391_392insGGT	ENSP00000482496.2:p.Ala130_Leu131insArg
ENST00000642281.1:c.275_276insGGT
ENST00000642455.1:c.391_392insGGT	ENSP00000493827.1:p.Ala130_Leu131insArg
ENST00000642751.1:c.261_262insGGT
ENST00000642999.1:c.133_134insGGT	ENSP00000496589.1:p.Ala44_Leu45insArg
ENST00000644408.1:c.267_268insGGT
ENST00000644954.1:c.133_134insGGT	ENSP00000494312.1:p.Ala44_Leu45insArg
ENST00000645400.1:c.232_233insGGT	ENSP00000496306.1:p.Ala77_Leu78insArg
ENST00000645671.1:c.12_13insGGT
ENST00000646082.1:c.225_226insGGT
ENST00000646571.1:c.391_392insGGT	ENSP00000495015.1:p.Ala130_Leu131insArg
ENST00000315285.7:c.391_392insGGT	ENSP00000320885.3:p.Ala130_Leu131insArg
ENST00000345662.5:c.391_392insGGT	ENSP00000340817.1:p.Ala130_Leu131insArg
ENST00000615843.4:c.391_392insGGT	ENSP00000480893.1:p.Ala130_Leu131insArg
ENST00000621856.1:c.133_134insGGT	ENSP00000482496.1:p.Ala44_Leu45insArg
NM_014946.3:c.391_392insGGT , LRG_714t1:c.391_392insGGT	NP_055761.2:p.Ala130_Leu131insArg
NM_199436.1:c.391_392insGGT	NP_955468.1:p.Ala130_Leu131insArg
XM_005264516.3:c.391_392insGGT	XP_005264573.1:p.Ala130_Leu131insArg
XM_011533067.1:c.391_392insGGT	XP_011531369.1:p.Ala130_Leu131insArg
NM_001363823.1:c.391_392insGGT	NP_001350752.1:p.Ala130_Leu131insArg
NM_001363875.1:c.391_392insGGT	NP_001350804.1:p.Ala130_Leu131insArg
XM_005264516.5:c.391_392insGGT	XP_005264573.1:p.Ala130_Leu131insArg
XM_011533067.2:c.391_392insGGT	XP_011531369.1:p.Ala130_Leu131insArg
XM_017004778.2:c.391_392insGGT	XP_016860267.1:p.Ala130_Leu131insArg
NM_001363823.2:c.391_392insGGT	NP_001350752.1:p.Ala130_Leu131insArg
NM_001363875.2:c.391_392insGGT	NP_001350804.1:p.Ala130_Leu131insArg
NM_001377959.1:c.391_392insGGT	NP_001364888.1:p.Ala130_Leu131insArg
NM_014946.4:c.391_392insGGT MANE Select	NP_055761.2:p.Ala130_Leu131insArg
NM_199436.2:c.391_392insGGT	NP_955468.1:p.Ala130_Leu131insArg