Canonical Allele Identifier: CA10575837
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 219094
ClinVar RCV Id: RCV000203477

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32133666_32137711dup , CM000664.2:g.32133666_32137711dup GRCh38
NC_000002.11:g.32358735_32362780dup , CM000664.1:g.32358735_32362780dup GRCh37
NC_000002.10:g.32212239_32216284dup NCBI36
NG_008730.1:g.75056_79101dup , LRG_714:g.75056_79101dup

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*906-2897_*1153+523dup
ENST00000315285.9:c.1246-2897_1493+523dup
ENST00000621856.2:c.1243-2897_1490+523dup
ENST00000642281.1:c.983-2897_1230+523dup
ENST00000642455.1:c.1147-2897_1394+523dup
ENST00000642751.1:c.1020-2897_1267+523dup
ENST00000642999.1:c.988-2897_1235+523dup
ENST00000643327.1:c.405-2897_560+523dup
ENST00000643334.1:c.826-2897_1073+523dup
ENST00000644408.1:c.1122-2897_1369+523dup
ENST00000644954.1:c.892-2897_1139+523dup
ENST00000645159.1:n.1983-2897_2230+523dup
ENST00000645671.1:c.696-2897_943+523dup
ENST00000645730.1:c.593-3443_672+523dup
ENST00000646082.1:c.892-2897_1139+523dup
ENST00000646571.1:c.1150-2897_1397+523dup
ENST00000647007.1:n.938-2897_1185+523dup
ENST00000647133.1:c.746-2897_993+523dup
ENST00000315285.7:c.1246-2897_1493+523dup
ENST00000345662.5:c.1150-2897_1397+523dup
ENST00000615843.4:c.1246-2897_1493+523dup
ENST00000621856.1:c.988-2897_1235+523dup
NM_014946.3:c.1246-2897_1493+523dup , LRG_714t1:c.1246-2897_1493+523dup
NM_199436.1:c.1150-2897_1397+523dup
XM_005264516.3:c.1243-2897_1490+523dup
XM_011533067.1:c.1246-2897_1493+523dup
NM_001363823.1:c.1243-2897_1490+523dup
NM_001363875.1:c.1147-2897_1394+523dup
XM_005264516.5:c.1243-2897_1490+523dup
XM_011533067.2:c.1246-2897_1493+523dup
XM_017004778.2:c.1150-2897_1397+523dup
NM_001363823.2:c.1243-2897_1490+523dup
NM_001363875.2:c.1147-2897_1394+523dup
NM_001377959.1:c.1150-2897_1397+523dup
NM_014946.4:c.1246-2897_1493+523dup
NM_199436.2:c.1150-2897_1397+523dup