Canonical Allele Identifier: CA1242461793
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064166_32064169delinsAGGC , CM000664.2:g.32064166_32064169delinsAGGC GRCh38
NC_000002.11:g.32289235_32289238delinsAGGC , CM000664.1:g.32289235_32289238delinsAGGC GRCh37
NC_000002.10:g.32142739_32142742delinsAGGC NCBI36
NG_008730.1:g.5556_5559delinsAGGC , LRG_714:g.5556_5559delinsAGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.335_338delinsAGGC ENSP00000515816.1:p.Glu112=
ENST00000315285.9:c.335_338delinsAGGC MANE Select ENSP00000320885.3:p.Glu112=
ENST00000621856.2:c.335_338delinsAGGC ENSP00000482496.2:p.Glu112=
ENST00000642281.1:c.219_222delinsAGGC
ENST00000642455.1:c.335_338delinsAGGC ENSP00000493827.1:p.Glu112=
ENST00000642751.1:c.205_208delinsAGGC
ENST00000642999.1:c.77_80delinsAGGC ENSP00000496589.1:p.Glu26=
ENST00000644408.1:c.211_214delinsAGGC
ENST00000644954.1:c.77_80delinsAGGC ENSP00000494312.1:p.Glu26=
ENST00000645400.1:c.176_179delinsAGGC ENSP00000496306.1:p.Glu59=
ENST00000646082.1:c.169_172delinsAGGC
ENST00000646571.1:c.335_338delinsAGGC ENSP00000495015.1:p.Glu112=
ENST00000315285.7:c.335_338delinsAGGC ENSP00000320885.3:p.Glu112=
ENST00000345662.5:c.335_338delinsAGGC ENSP00000340817.1:p.Glu112=
ENST00000615843.4:c.335_338delinsAGGC ENSP00000480893.1:p.Glu112=
ENST00000621856.1:c.77_80delinsAGGC ENSP00000482496.1:p.Glu26=
NM_014946.3:c.335_338delinsAGGC , LRG_714t1:c.335_338delinsAGGC NP_055761.2:p.Glu112=
NM_199436.1:c.335_338delinsAGGC NP_955468.1:p.Glu112=
XM_005264516.3:c.335_338delinsAGGC XP_005264573.1:p.Glu112=
XM_011533067.1:c.335_338delinsAGGC XP_011531369.1:p.Glu112=
NM_001363823.1:c.335_338delinsAGGC NP_001350752.1:p.Glu112=
NM_001363875.1:c.335_338delinsAGGC NP_001350804.1:p.Glu112=
XM_005264516.5:c.335_338delinsAGGC XP_005264573.1:p.Glu112=
XM_011533067.2:c.335_338delinsAGGC XP_011531369.1:p.Glu112=
XM_017004778.2:c.335_338delinsAGGC XP_016860267.1:p.Glu112=
NM_001363823.2:c.335_338delinsAGGC NP_001350752.1:p.Glu112=
NM_001363875.2:c.335_338delinsAGGC NP_001350804.1:p.Glu112=
NM_001377959.1:c.335_338delinsAGGC NP_001364888.1:p.Glu112=
NM_014946.4:c.335_338delinsAGGC MANE Select NP_055761.2:p.Glu112=
NM_199436.2:c.335_338delinsAGGC NP_955468.1:p.Glu112=