Canonical Allele Identifier: CA658657016

Gene: SPAST

Linked Data

• ClinVar Variation Id: 468573
• ClinVar RCV Id: RCV000557631 ; RCV001848957
• dbSNP Id: rs1553400002
• MyVariant Identifiers: chr2:g.32314650del (hg19) ; chr2:g.32089581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089581del , CM000664.2:g.32089581del	GRCh38
NC_000002.11:g.32314650del , CM000664.1:g.32314650del	GRCh37
NC_000002.10:g.32168154del	NCBI36
NG_008730.1:g.30971del , LRG_714:g.30971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*222del	ENSP00000515816.1:n.*222del
ENST00000315285.9:c.562del MANE Select	ENSP00000320885.3:p.Ala188ProfsTer8
ENST00000621856.2:c.559del	ENSP00000482496.2:p.Ala187ProfsTer8
ENST00000642281.1:c.446del
ENST00000642455.1:c.559del	ENSP00000493827.1:p.Ala187ProfsTer8
ENST00000642751.1:c.432del
ENST00000642999.1:c.304del	ENSP00000496589.1:p.Ala102ProfsTer8
ENST00000643334.1:c.147del
ENST00000644408.1:c.438del
ENST00000644954.1:c.304del	ENSP00000494312.1:p.Ala102ProfsTer8
ENST00000645400.1:c.518del	ENSP00000496306.1:n.518del
ENST00000645671.1:c.37-9215del
ENST00000646082.1:c.396del
ENST00000646571.1:c.562del	ENSP00000495015.1:p.Ala188ProfsTer8
ENST00000647007.1:n.259del
ENST00000647133.1:c.137del
ENST00000315285.7:c.562del	ENSP00000320885.3:p.Ala188ProfsTer8
ENST00000345662.5:c.562del	ENSP00000340817.1:p.Ala188ProfsTer8
ENST00000615843.4:c.562del	ENSP00000480893.1:p.Ala188ProfsTer8
ENST00000621856.1:c.304del	ENSP00000482496.1:p.Ala102ProfsTer8
NM_014946.3:c.562del , LRG_714t1:c.562del	NP_055761.2:p.Ala188ProfsTer8
NM_199436.1:c.562del	NP_955468.1:p.Ala188ProfsTer8
XM_005264516.3:c.559del	XP_005264573.1:p.Ala187ProfsTer8
XM_011533067.1:c.562del	XP_011531369.1:p.Ala188ProfsTer8
NM_001363823.1:c.559del	NP_001350752.1:p.Ala187ProfsTer8
NM_001363875.1:c.559del	NP_001350804.1:p.Ala187ProfsTer8
XM_005264516.5:c.559del	XP_005264573.1:p.Ala187ProfsTer8
XM_011533067.2:c.562del	XP_011531369.1:p.Ala188ProfsTer8
XM_017004778.2:c.562del	XP_016860267.1:p.Ala188ProfsTer8
NM_001363823.2:c.559del	NP_001350752.1:p.Ala187ProfsTer8
NM_001363875.2:c.559del	NP_001350804.1:p.Ala187ProfsTer8
NM_001377959.1:c.562del	NP_001364888.1:p.Ala188ProfsTer8
NM_014946.4:c.562del MANE Select	NP_055761.2:p.Ala188ProfsTer8
NM_199436.2:c.562del	NP_955468.1:p.Ala188ProfsTer8