Canonical Allele Identifier: CA2586968945
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32064144_32064151del , CM000664.2:g.32064144_32064151del GRCh38
NC_000002.11:g.32289213_32289220del , CM000664.1:g.32289213_32289220del GRCh37
NC_000002.10:g.32142717_32142724del NCBI36
NG_008730.1:g.5534_5541del , LRG_714:g.5534_5541del

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.313_320del ENSP00000515816.1:p.Pro105GlyfsTer28
ENST00000315285.9:c.313_320del MANE Select ENSP00000320885.3:p.Pro105GlyfsTer28
ENST00000621856.2:c.313_320del ENSP00000482496.2:p.Pro105GlyfsTer28
ENST00000642281.1:c.197_204del
ENST00000642455.1:c.313_320del ENSP00000493827.1:p.Pro105GlyfsTer28
ENST00000642751.1:c.183_190del
ENST00000642999.1:c.55_62del ENSP00000496589.1:p.Pro19GlyfsTer28
ENST00000644408.1:c.189_196del
ENST00000644954.1:c.55_62del ENSP00000494312.1:p.Pro19GlyfsTer28
ENST00000645400.1:c.154_161del ENSP00000496306.1:p.Pro52GlyfsTer28
ENST00000646082.1:c.147_154del
ENST00000646571.1:c.313_320del ENSP00000495015.1:p.Pro105GlyfsTer28
ENST00000315285.7:c.313_320del ENSP00000320885.3:p.Pro105GlyfsTer28
ENST00000345662.5:c.313_320del ENSP00000340817.1:p.Pro105GlyfsTer28
ENST00000615843.4:c.313_320del ENSP00000480893.1:p.Pro105GlyfsTer28
ENST00000621856.1:c.55_62del ENSP00000482496.1:p.Pro19GlyfsTer28
NM_014946.3:c.313_320del , LRG_714t1:c.313_320del NP_055761.2:p.Pro105GlyfsTer28
NM_199436.1:c.313_320del NP_955468.1:p.Pro105GlyfsTer28
XM_005264516.3:c.313_320del XP_005264573.1:p.Pro105GlyfsTer28
XM_011533067.1:c.313_320del XP_011531369.1:p.Pro105GlyfsTer28
NM_001363823.1:c.313_320del NP_001350752.1:p.Pro105GlyfsTer28
NM_001363875.1:c.313_320del NP_001350804.1:p.Pro105GlyfsTer28
XM_005264516.5:c.313_320del XP_005264573.1:p.Pro105GlyfsTer28
XM_011533067.2:c.313_320del XP_011531369.1:p.Pro105GlyfsTer28
XM_017004778.2:c.313_320del XP_016860267.1:p.Pro105GlyfsTer28
NM_001363823.2:c.313_320del NP_001350752.1:p.Pro105GlyfsTer28
NM_001363875.2:c.313_320del NP_001350804.1:p.Pro105GlyfsTer28
NM_001377959.1:c.313_320del NP_001364888.1:p.Pro105GlyfsTer28
NM_014946.4:c.313_320del MANE Select NP_055761.2:p.Pro105GlyfsTer28
NM_199436.2:c.313_320del NP_955468.1:p.Pro105GlyfsTer28