Canonical Allele Identifier: CA1600542
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1807004
ClinVar RCV Id: RCV002474433
dbSNP Id: rs758749127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064138_32064143del , CM000664.2:g.32064138_32064143del GRCh38
NC_000002.11:g.32289207_32289212del , CM000664.1:g.32289207_32289212del GRCh37
NC_000002.10:g.32142711_32142716del NCBI36
NG_008730.1:g.5528_5533del , LRG_714:g.5528_5533del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.307_312del ENSP00000515816.1:p.Ser103_Ala104del
ENST00000315285.9:c.307_312del MANE Select ENSP00000320885.3:p.Ser103_Ala104del
ENST00000621856.2:c.307_312del ENSP00000482496.2:p.Ser103_Ala104del
ENST00000642281.1:c.191_196del
ENST00000642455.1:c.307_312del ENSP00000493827.1:p.Ser103_Ala104del
ENST00000642751.1:c.177_182del
ENST00000642999.1:c.49_54del ENSP00000496589.1:p.Ser17_Ala18del
ENST00000644408.1:c.183_188del
ENST00000644954.1:c.49_54del ENSP00000494312.1:p.Ser17_Ala18del
ENST00000645400.1:c.148_153del ENSP00000496306.1:p.Ser50_Ala51del
ENST00000646082.1:c.141_146del
ENST00000646571.1:c.307_312del ENSP00000495015.1:p.Ser103_Ala104del
ENST00000315285.7:c.307_312del ENSP00000320885.3:p.Ser103_Ala104del
ENST00000345662.5:c.307_312del ENSP00000340817.1:p.Ser103_Ala104del
ENST00000615843.4:c.307_312del ENSP00000480893.1:p.Ser103_Ala104del
ENST00000621856.1:c.49_54del ENSP00000482496.1:p.Ser17_Ala18del
NM_014946.3:c.307_312del , LRG_714t1:c.307_312del NP_055761.2:p.Ser103_Ala104del
NM_199436.1:c.307_312del NP_955468.1:p.Ser103_Ala104del
XM_005264516.3:c.307_312del XP_005264573.1:p.Ser103_Ala104del
XM_011533067.1:c.307_312del XP_011531369.1:p.Ser103_Ala104del
NM_001363823.1:c.307_312del NP_001350752.1:p.Ser103_Ala104del
NM_001363875.1:c.307_312del NP_001350804.1:p.Ser103_Ala104del
XM_005264516.5:c.307_312del XP_005264573.1:p.Ser103_Ala104del
XM_011533067.2:c.307_312del XP_011531369.1:p.Ser103_Ala104del
XM_017004778.2:c.307_312del XP_016860267.1:p.Ser103_Ala104del
NM_001363823.2:c.307_312del NP_001350752.1:p.Ser103_Ala104del
NM_001363875.2:c.307_312del NP_001350804.1:p.Ser103_Ala104del
NM_001377959.1:c.307_312del NP_001364888.1:p.Ser103_Ala104del
NM_014946.4:c.307_312del MANE Select NP_055761.2:p.Ser103_Ala104del
NM_199436.2:c.307_312del NP_955468.1:p.Ser103_Ala104del