Canonical Allele Identifier: CA16042409
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 372769
ClinVar RCV Id: RCV000412810
dbSNP Id: rs1057517974
MyVariant Identifiers: chr2:g.32314659del (hg19) chr2:g.32089590del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32089590del , CM000664.2:g.32089590del GRCh38
NC_000002.11:g.32314659del , CM000664.1:g.32314659del GRCh37
NC_000002.10:g.32168163del NCBI36
NG_008730.1:g.30980del , LRG_714:g.30980del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*231del ENSP00000515816.1:n.*231del
ENST00000315285.9:c.571del MANE Select ENSP00000320885.3:p.Arg191AlafsTer5
ENST00000621856.2:c.568del ENSP00000482496.2:p.Arg190AlafsTer5
ENST00000642281.1:c.455del
ENST00000642455.1:c.568del ENSP00000493827.1:p.Arg190AlafsTer5
ENST00000642751.1:c.441del
ENST00000642999.1:c.313del ENSP00000496589.1:p.Arg105AlafsTer5
ENST00000643334.1:c.156del
ENST00000644408.1:c.447del
ENST00000644954.1:c.313del ENSP00000494312.1:p.Arg105AlafsTer5
ENST00000645400.1:c.527del ENSP00000496306.1:n.527del
ENST00000645671.1:c.37-9206del
ENST00000646082.1:c.405del
ENST00000646571.1:c.571del ENSP00000495015.1:p.Arg191AlafsTer5
ENST00000647007.1:n.268del
ENST00000647133.1:c.146del
ENST00000315285.7:c.571del ENSP00000320885.3:p.Arg191AlafsTer5
ENST00000345662.5:c.571del ENSP00000340817.1:p.Arg191AlafsTer5
ENST00000615843.4:c.571del ENSP00000480893.1:p.Arg191AlafsTer5
ENST00000621856.1:c.313del ENSP00000482496.1:p.Arg105AlafsTer5
NM_014946.3:c.571del , LRG_714t1:c.571del NP_055761.2:p.Arg191AlafsTer5
NM_199436.1:c.571del NP_955468.1:p.Arg191AlafsTer5
XM_005264516.3:c.568del XP_005264573.1:p.Arg190AlafsTer5
XM_011533067.1:c.571del XP_011531369.1:p.Arg191AlafsTer5
NM_001363823.1:c.568del NP_001350752.1:p.Arg190AlafsTer5
NM_001363875.1:c.568del NP_001350804.1:p.Arg190AlafsTer5
XM_005264516.5:c.568del XP_005264573.1:p.Arg190AlafsTer5
XM_011533067.2:c.571del XP_011531369.1:p.Arg191AlafsTer5
XM_017004778.2:c.571del XP_016860267.1:p.Arg191AlafsTer5
NM_001363823.2:c.568del NP_001350752.1:p.Arg190AlafsTer5
NM_001363875.2:c.568del NP_001350804.1:p.Arg190AlafsTer5
NM_001377959.1:c.571del NP_001364888.1:p.Arg191AlafsTer5
NM_014946.4:c.571del MANE Select NP_055761.2:p.Arg191AlafsTer5
NM_199436.2:c.571del NP_955468.1:p.Arg191AlafsTer5
Search 100 bp 5'
Search 100 bp 3'