Canonical Allele Identifier: CA2749388910
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064253_32064259del , CM000664.2:g.32064253_32064259del GRCh38
NC_000002.11:g.32289322_32289328del , CM000664.1:g.32289322_32289328del GRCh37
NC_000002.10:g.32142826_32142832del NCBI36
NG_008730.1:g.5643_5649del , LRG_714:g.5643_5649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.415+7_415+13del ENSP00000515816.1:n.415+7_415+13del
ENST00000315285.9:c.415+7_415+13del MANE Select ENSP00000320885.3:n.415+7_415+13del
ENST00000621856.2:c.415+7_415+13del ENSP00000482496.2:n.415+7_415+13del
ENST00000642281.1:c.299+7_299+13del
ENST00000642455.1:c.415+7_415+13del ENSP00000493827.1:n.415+7_415+13del
ENST00000642751.1:c.285+7_285+13del
ENST00000642999.1:c.157+7_157+13del ENSP00000496589.1:n.157+7_157+13del
ENST00000644408.1:c.291+7_291+13del
ENST00000644954.1:c.157+7_157+13del ENSP00000494312.1:n.157+7_157+13del
ENST00000645400.1:c.256+7_256+13del ENSP00000496306.1:n.256+7_256+13del
ENST00000645671.1:c.36+7_36+13del
ENST00000646082.1:c.249+7_249+13del
ENST00000646571.1:c.415+7_415+13del ENSP00000495015.1:n.415+7_415+13del
ENST00000315285.7:c.415+7_415+13del ENSP00000320885.3:n.415+7_415+13del
ENST00000345662.5:c.415+7_415+13del ENSP00000340817.1:n.415+7_415+13del
ENST00000615843.4:c.415+7_415+13del ENSP00000480893.1:n.415+7_415+13del
ENST00000621856.1:c.157+7_157+13del ENSP00000482496.1:n.157+7_157+13del
NM_014946.3:c.415+7_415+13del , LRG_714t1:c.415+7_415+13del NP_055761.2:n.415+7_415+13del
NM_199436.1:c.415+7_415+13del NP_955468.1:n.415+7_415+13del
XM_005264516.3:c.415+7_415+13del XP_005264573.1:n.415+7_415+13del
XM_011533067.1:c.415+7_415+13del XP_011531369.1:n.415+7_415+13del
NM_001363823.1:c.415+7_415+13del NP_001350752.1:n.415+7_415+13del
NM_001363875.1:c.415+7_415+13del NP_001350804.1:n.415+7_415+13del
XM_005264516.5:c.415+7_415+13del XP_005264573.1:n.415+7_415+13del
XM_011533067.2:c.415+7_415+13del XP_011531369.1:n.415+7_415+13del
XM_017004778.2:c.415+7_415+13del XP_016860267.1:n.415+7_415+13del
NM_001363823.2:c.415+7_415+13del NP_001350752.1:n.415+7_415+13del
NM_001363875.2:c.415+7_415+13del NP_001350804.1:n.415+7_415+13del
NM_001377959.1:c.415+7_415+13del NP_001364888.1:n.415+7_415+13del
NM_014946.4:c.415+7_415+13del MANE Select NP_055761.2:n.415+7_415+13del
NM_199436.2:c.415+7_415+13del NP_955468.1:n.415+7_415+13del