Canonical Allele Identifier: CA2749393761
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137243_32137353del , CM000664.2:g.32137243_32137353del GRCh38
NC_000002.11:g.32362312_32362422del , CM000664.1:g.32362312_32362422del GRCh37
NC_000002.10:g.32215816_32215926del NCBI36
NG_008730.1:g.78633_78743del , LRG_714:g.78633_78743del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*1153+55_*1153+165del ENSP00000515816.1:n.*1153+55_*1153+165del
ENST00000315285.9:c.1493+55_1493+165del MANE Select ENSP00000320885.3:n.1493+55_1493+165del
ENST00000621856.2:c.1490+55_1490+165del ENSP00000482496.2:n.1490+55_1490+165del
ENST00000642281.1:c.1230+55_1230+165del
ENST00000642455.1:c.1394+55_1394+165del ENSP00000493827.1:n.1394+55_1394+165del
ENST00000642751.1:c.1267+55_1267+165del
ENST00000642999.1:c.1235+55_1235+165del ENSP00000496589.1:n.1235+55_1235+165del
ENST00000643327.1:c.560+55_560+165del
ENST00000643334.1:c.1073+55_1073+165del
ENST00000644408.1:c.1369+55_1369+165del
ENST00000644954.1:c.1139+55_1139+165del ENSP00000494312.1:n.1139+55_1139+165del
ENST00000645159.1:n.2230+55_2230+165del
ENST00000645671.1:c.943+55_943+165del
ENST00000645730.1:c.672+55_672+165del
ENST00000646082.1:c.1139+55_1139+165del
ENST00000646571.1:c.1397+55_1397+165del ENSP00000495015.1:n.1397+55_1397+165del
ENST00000647007.1:n.1185+55_1185+165del
ENST00000647133.1:c.993+55_993+165del
ENST00000315285.7:c.1493+55_1493+165del ENSP00000320885.3:n.1493+55_1493+165del
ENST00000345662.5:c.1397+55_1397+165del ENSP00000340817.1:n.1397+55_1397+165del
ENST00000615843.4:c.1493+55_1493+165del ENSP00000480893.1:n.1493+55_1493+165del
ENST00000621856.1:c.1235+55_1235+165del ENSP00000482496.1:n.1235+55_1235+165del
NM_014946.3:c.1493+55_1493+165del , LRG_714t1:c.1493+55_1493+165del NP_055761.2:n.1493+55_1493+165del
NM_199436.1:c.1397+55_1397+165del NP_955468.1:n.1397+55_1397+165del
XM_005264516.3:c.1490+55_1490+165del XP_005264573.1:n.1490+55_1490+165del
XM_011533067.1:c.1493+55_1493+165del XP_011531369.1:n.1493+55_1493+165del
NM_001363823.1:c.1490+55_1490+165del NP_001350752.1:n.1490+55_1490+165del
NM_001363875.1:c.1394+55_1394+165del NP_001350804.1:n.1394+55_1394+165del
XM_005264516.5:c.1490+55_1490+165del XP_005264573.1:n.1490+55_1490+165del
XM_011533067.2:c.1493+55_1493+165del XP_011531369.1:n.1493+55_1493+165del
XM_017004778.2:c.1397+55_1397+165del XP_016860267.1:n.1397+55_1397+165del
NM_001363823.2:c.1490+55_1490+165del NP_001350752.1:n.1490+55_1490+165del
NM_001363875.2:c.1394+55_1394+165del NP_001350804.1:n.1394+55_1394+165del
NM_001377959.1:c.1397+55_1397+165del NP_001364888.1:n.1397+55_1397+165del
NM_014946.4:c.1493+55_1493+165del MANE Select NP_055761.2:n.1493+55_1493+165del
NM_199436.2:c.1397+55_1397+165del NP_955468.1:n.1397+55_1397+165del