Canonical Allele Identifier: CA2576929938
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064158_32064159insA , CM000664.2:g.32064158_32064159insA GRCh38
NC_000002.11:g.32289227_32289228insA , CM000664.1:g.32289227_32289228insA GRCh37
NC_000002.10:g.32142731_32142732insA NCBI36
NG_008730.1:g.5548_5549insA , LRG_714:g.5548_5549insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.327_328insA ENSP00000515816.1:p.Gly110ArgfsTer26
ENST00000315285.9:c.327_328insA MANE Select ENSP00000320885.3:p.Gly110ArgfsTer26
ENST00000621856.2:c.327_328insA ENSP00000482496.2:p.Gly110ArgfsTer26
ENST00000642281.1:c.211_212insA
ENST00000642455.1:c.327_328insA ENSP00000493827.1:p.Gly110ArgfsTer26
ENST00000642751.1:c.197_198insA
ENST00000642999.1:c.69_70insA ENSP00000496589.1:p.Gly24ArgfsTer26
ENST00000644408.1:c.203_204insA
ENST00000644954.1:c.69_70insA ENSP00000494312.1:p.Gly24ArgfsTer26
ENST00000645400.1:c.168_169insA ENSP00000496306.1:p.Gly57ArgfsTer26
ENST00000646082.1:c.161_162insA
ENST00000646571.1:c.327_328insA ENSP00000495015.1:p.Gly110ArgfsTer26
ENST00000315285.7:c.327_328insA ENSP00000320885.3:p.Gly110ArgfsTer26
ENST00000345662.5:c.327_328insA ENSP00000340817.1:p.Gly110ArgfsTer26
ENST00000615843.4:c.327_328insA ENSP00000480893.1:p.Gly110ArgfsTer26
ENST00000621856.1:c.69_70insA ENSP00000482496.1:p.Gly24ArgfsTer26
NM_014946.3:c.327_328insA , LRG_714t1:c.327_328insA NP_055761.2:p.Gly110ArgfsTer26
NM_199436.1:c.327_328insA NP_955468.1:p.Gly110ArgfsTer26
XM_005264516.3:c.327_328insA XP_005264573.1:p.Gly110ArgfsTer26
XM_011533067.1:c.327_328insA XP_011531369.1:p.Gly110ArgfsTer26
NM_001363823.1:c.327_328insA NP_001350752.1:p.Gly110ArgfsTer26
NM_001363875.1:c.327_328insA NP_001350804.1:p.Gly110ArgfsTer26
XM_005264516.5:c.327_328insA XP_005264573.1:p.Gly110ArgfsTer26
XM_011533067.2:c.327_328insA XP_011531369.1:p.Gly110ArgfsTer26
XM_017004778.2:c.327_328insA XP_016860267.1:p.Gly110ArgfsTer26
NM_001363823.2:c.327_328insA NP_001350752.1:p.Gly110ArgfsTer26
NM_001363875.2:c.327_328insA NP_001350804.1:p.Gly110ArgfsTer26
NM_001377959.1:c.327_328insA NP_001364888.1:p.Gly110ArgfsTer26
NM_014946.4:c.327_328insA MANE Select NP_055761.2:p.Gly110ArgfsTer26
NM_199436.2:c.327_328insA NP_955468.1:p.Gly110ArgfsTer26