Canonical Allele Identifier: CA2573051928

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344063
• ClinVar RCV Id: RCV001848166
• dbSNP Id: rs2148685848

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064221_32064222del , CM000664.2:g.32064221_32064222del	GRCh38
NC_000002.11:g.32289290_32289291del , CM000664.1:g.32289290_32289291del	GRCh37
NC_000002.10:g.32142794_32142795del	NCBI36
NG_008730.1:g.5611_5612del , LRG_714:g.5611_5612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.390_391del	ENSP00000515816.1:p.Leu131AlafsTer4
ENST00000315285.9:c.390_391del MANE Select	ENSP00000320885.3:p.Leu131AlafsTer4
ENST00000621856.2:c.390_391del	ENSP00000482496.2:p.Leu131AlafsTer4
ENST00000642281.1:c.274_275del
ENST00000642455.1:c.390_391del	ENSP00000493827.1:p.Leu131AlafsTer4
ENST00000642751.1:c.260_261del
ENST00000642999.1:c.132_133del	ENSP00000496589.1:p.Leu45AlafsTer4
ENST00000644408.1:c.266_267del
ENST00000644954.1:c.132_133del	ENSP00000494312.1:p.Leu45AlafsTer4
ENST00000645400.1:c.231_232del	ENSP00000496306.1:p.Leu78AlafsTer4
ENST00000645671.1:c.11_12del
ENST00000646082.1:c.224_225del
ENST00000646571.1:c.390_391del	ENSP00000495015.1:p.Leu131AlafsTer4
ENST00000315285.7:c.390_391del	ENSP00000320885.3:p.Leu131AlafsTer4
ENST00000345662.5:c.390_391del	ENSP00000340817.1:p.Leu131AlafsTer4
ENST00000615843.4:c.390_391del	ENSP00000480893.1:p.Leu131AlafsTer4
ENST00000621856.1:c.132_133del	ENSP00000482496.1:p.Leu45AlafsTer4
NM_014946.3:c.390_391del , LRG_714t1:c.390_391del	NP_055761.2:p.Leu131AlafsTer4
NM_199436.1:c.390_391del	NP_955468.1:p.Leu131AlafsTer4
XM_005264516.3:c.390_391del	XP_005264573.1:p.Leu131AlafsTer4
XM_011533067.1:c.390_391del	XP_011531369.1:p.Leu131AlafsTer4
NM_001363823.1:c.390_391del	NP_001350752.1:p.Leu131AlafsTer4
NM_001363875.1:c.390_391del	NP_001350804.1:p.Leu131AlafsTer4
XM_005264516.5:c.390_391del	XP_005264573.1:p.Leu131AlafsTer4
XM_011533067.2:c.390_391del	XP_011531369.1:p.Leu131AlafsTer4
XM_017004778.2:c.390_391del	XP_016860267.1:p.Leu131AlafsTer4
NM_001363823.2:c.390_391del	NP_001350752.1:p.Leu131AlafsTer4
NM_001363875.2:c.390_391del	NP_001350804.1:p.Leu131AlafsTer4
NM_001377959.1:c.390_391del	NP_001364888.1:p.Leu131AlafsTer4
NM_014946.4:c.390_391del MANE Select	NP_055761.2:p.Leu131AlafsTer4
NM_199436.2:c.390_391del	NP_955468.1:p.Leu131AlafsTer4