Canonical Allele Identifier: CA16610759
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 409034
ClinVar RCV Id: RCV000460629
dbSNP Id: rs1060502230

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064221_32064222delinsGGT , CM000664.2:g.32064221_32064222delinsGGT GRCh38
NC_000002.11:g.32289290_32289291delinsGGT , CM000664.1:g.32289290_32289291delinsGGT GRCh37
NC_000002.10:g.32142794_32142795delinsGGT NCBI36
NG_008730.1:g.5611_5612delinsGGT , LRG_714:g.5611_5612delinsGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.390_391delinsGGT ENSP00000515816.1:p.Leu131ValfsTer5
ENST00000315285.9:c.390_391delinsGGT MANE Select ENSP00000320885.3:p.Leu131ValfsTer5
ENST00000621856.2:c.390_391delinsGGT ENSP00000482496.2:p.Leu131ValfsTer5
ENST00000642281.1:c.274_275delinsGGT
ENST00000642455.1:c.390_391delinsGGT ENSP00000493827.1:p.Leu131ValfsTer5
ENST00000642751.1:c.260_261delinsGGT
ENST00000642999.1:c.132_133delinsGGT ENSP00000496589.1:p.Leu45ValfsTer5
ENST00000644408.1:c.266_267delinsGGT
ENST00000644954.1:c.132_133delinsGGT ENSP00000494312.1:p.Leu45ValfsTer5
ENST00000645400.1:c.231_232delinsGGT ENSP00000496306.1:p.Leu78ValfsTer5
ENST00000645671.1:c.11_12delinsGGT
ENST00000646082.1:c.224_225delinsGGT
ENST00000646571.1:c.390_391delinsGGT ENSP00000495015.1:p.Leu131ValfsTer5
ENST00000315285.7:c.390_391delinsGGT ENSP00000320885.3:p.Leu131ValfsTer5
ENST00000345662.5:c.390_391delinsGGT ENSP00000340817.1:p.Leu131ValfsTer5
ENST00000615843.4:c.390_391delinsGGT ENSP00000480893.1:p.Leu131ValfsTer5
ENST00000621856.1:c.132_133delinsGGT ENSP00000482496.1:p.Leu45ValfsTer5
NM_014946.3:c.390_391delinsGGT , LRG_714t1:c.390_391delinsGGT NP_055761.2:p.Leu131ValfsTer5
NM_199436.1:c.390_391delinsGGT NP_955468.1:p.Leu131ValfsTer5
XM_005264516.3:c.390_391delinsGGT XP_005264573.1:p.Leu131ValfsTer5
XM_011533067.1:c.390_391delinsGGT XP_011531369.1:p.Leu131ValfsTer5
NM_001363823.1:c.390_391delinsGGT NP_001350752.1:p.Leu131ValfsTer5
NM_001363875.1:c.390_391delinsGGT NP_001350804.1:p.Leu131ValfsTer5
XM_005264516.5:c.390_391delinsGGT XP_005264573.1:p.Leu131ValfsTer5
XM_011533067.2:c.390_391delinsGGT XP_011531369.1:p.Leu131ValfsTer5
XM_017004778.2:c.390_391delinsGGT XP_016860267.1:p.Leu131ValfsTer5
NM_001363823.2:c.390_391delinsGGT NP_001350752.1:p.Leu131ValfsTer5
NM_001363875.2:c.390_391delinsGGT NP_001350804.1:p.Leu131ValfsTer5
NM_001377959.1:c.390_391delinsGGT NP_001364888.1:p.Leu131ValfsTer5
NM_014946.4:c.390_391delinsGGT MANE Select NP_055761.2:p.Leu131ValfsTer5
NM_199436.2:c.390_391delinsGGT NP_955468.1:p.Leu131ValfsTer5