Canonical Allele Identifier: CA16043391
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 374078
ClinVar RCV Id: RCV000414756
dbSNP Id: rs1057518880
MyVariant Identifiers: chr2:g.32352035del (hg19) chr2:g.32126966del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32126966del , CM000664.2:g.32126966del GRCh38
NC_000002.11:g.32352035del , CM000664.1:g.32352035del GRCh37
NC_000002.10:g.32205539del NCBI36
NG_008730.1:g.68356del , LRG_714:g.68356del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*777del ENSP00000515816.1:n.*777del
ENST00000315285.9:c.1117del MANE Select ENSP00000320885.3:p.Ala373LeufsTer23
ENST00000621856.2:c.1114del ENSP00000482496.2:p.Ala372LeufsTer23
ENST00000642281.1:c.983-9597del
ENST00000642455.1:c.1018del ENSP00000493827.1:p.Ala340LeufsTer23
ENST00000642751.1:c.891del
ENST00000642999.1:c.859del ENSP00000496589.1:p.Ala287LeufsTer23
ENST00000643327.1:c.276del
ENST00000643334.1:c.697del
ENST00000644408.1:c.993del
ENST00000644954.1:c.763del ENSP00000494312.1:p.Ala255LeufsTer23
ENST00000645159.1:n.469del
ENST00000645550.1:n.330del
ENST00000645671.1:c.567del
ENST00000645730.1:c.464del
ENST00000646082.1:c.763del
ENST00000646571.1:c.1021del ENSP00000495015.1:p.Ala341LeufsTer23
ENST00000647007.1:n.809del
ENST00000647133.1:c.674-1442del
ENST00000315285.7:c.1117del ENSP00000320885.3:p.Ala373LeufsTer23
ENST00000345662.5:c.1021del ENSP00000340817.1:p.Ala341LeufsTer23
ENST00000615843.4:c.1117del ENSP00000480893.1:p.Ala373LeufsTer23
ENST00000621856.1:c.859del ENSP00000482496.1:p.Ala287LeufsTer23
NM_014946.3:c.1117del , LRG_714t1:c.1117del NP_055761.2:p.Ala373LeufsTer23
NM_199436.1:c.1021del NP_955468.1:p.Ala341LeufsTer23
XM_005264516.3:c.1114del XP_005264573.1:p.Ala372LeufsTer23
XM_011533067.1:c.1117del XP_011531369.1:p.Ala373LeufsTer23
NM_001363823.1:c.1114del NP_001350752.1:p.Ala372LeufsTer23
NM_001363875.1:c.1018del NP_001350804.1:p.Ala340LeufsTer23
XM_005264516.5:c.1114del XP_005264573.1:p.Ala372LeufsTer23
XM_011533067.2:c.1117del XP_011531369.1:p.Ala373LeufsTer23
XM_017004778.2:c.1021del XP_016860267.1:p.Ala341LeufsTer23
NM_001363823.2:c.1114del NP_001350752.1:p.Ala372LeufsTer23
NM_001363875.2:c.1018del NP_001350804.1:p.Ala340LeufsTer23
NM_001377959.1:c.1021del NP_001364888.1:p.Ala341LeufsTer23
NM_014946.4:c.1117del MANE Select NP_055761.2:p.Ala373LeufsTer23
NM_199436.2:c.1021del NP_955468.1:p.Ala341LeufsTer23
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