Canonical Allele Identifier: CA2586964702
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32127024_32127025insC , CM000664.2:g.32127024_32127025insC GRCh38
NC_000002.11:g.32352093_32352094insC , CM000664.1:g.32352093_32352094insC GRCh37
NC_000002.10:g.32205597_32205598insC NCBI36
NG_008730.1:g.68414_68415insC , LRG_714:g.68414_68415insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*833+2_*833+3insC ENSP00000515816.1:n.*833+2_*833+3insC
ENST00000315285.9:c.1173+2_1173+3insC MANE Select ENSP00000320885.3:n.1173+2_1173+3insC
ENST00000621856.2:c.1170+2_1170+3insC ENSP00000482496.2:n.1170+2_1170+3insC
ENST00000642281.1:c.983-9539_983-9538insC
ENST00000642455.1:c.1074+2_1074+3insC ENSP00000493827.1:n.1074+2_1074+3insC
ENST00000642751.1:c.947+2_947+3insC
ENST00000642999.1:c.915+2_915+3insC ENSP00000496589.1:n.915+2_915+3insC
ENST00000643327.1:c.332+2_332+3insC
ENST00000643334.1:c.753+2_753+3insC
ENST00000644408.1:c.1049+2_1049+3insC
ENST00000644954.1:c.819+2_819+3insC ENSP00000494312.1:n.819+2_819+3insC
ENST00000645159.1:n.527_528insC
ENST00000645550.1:n.386+2_386+3insC
ENST00000645671.1:c.623+2_623+3insC
ENST00000645730.1:c.520+2_520+3insC
ENST00000646082.1:c.819+2_819+3insC
ENST00000646571.1:c.1077+2_1077+3insC ENSP00000495015.1:n.1077+2_1077+3insC
ENST00000647007.1:n.865+2_865+3insC
ENST00000647133.1:c.674-1384_674-1383insC
ENST00000315285.7:c.1173+2_1173+3insC ENSP00000320885.3:n.1173+2_1173+3insC
ENST00000345662.5:c.1077+2_1077+3insC ENSP00000340817.1:n.1077+2_1077+3insC
ENST00000615843.4:c.1173+2_1173+3insC ENSP00000480893.1:n.1173+2_1173+3insC
ENST00000621856.1:c.915+2_915+3insC ENSP00000482496.1:n.915+2_915+3insC
NM_014946.3:c.1173+2_1173+3insC , LRG_714t1:c.1173+2_1173+3insC NP_055761.2:n.1173+2_1173+3insC
NM_199436.1:c.1077+2_1077+3insC NP_955468.1:n.1077+2_1077+3insC
XM_005264516.3:c.1170+2_1170+3insC XP_005264573.1:n.1170+2_1170+3insC
XM_011533067.1:c.1173+2_1173+3insC XP_011531369.1:n.1173+2_1173+3insC
NM_001363823.1:c.1170+2_1170+3insC NP_001350752.1:n.1170+2_1170+3insC
NM_001363875.1:c.1074+2_1074+3insC NP_001350804.1:n.1074+2_1074+3insC
XM_005264516.5:c.1170+2_1170+3insC XP_005264573.1:n.1170+2_1170+3insC
XM_011533067.2:c.1173+2_1173+3insC XP_011531369.1:n.1173+2_1173+3insC
XM_017004778.2:c.1077+2_1077+3insC XP_016860267.1:n.1077+2_1077+3insC
NM_001363823.2:c.1170+2_1170+3insC NP_001350752.1:n.1170+2_1170+3insC
NM_001363875.2:c.1074+2_1074+3insC NP_001350804.1:n.1074+2_1074+3insC
NM_001377959.1:c.1077+2_1077+3insC NP_001364888.1:n.1077+2_1077+3insC
NM_014946.4:c.1173+2_1173+3insC MANE Select NP_055761.2:n.1173+2_1173+3insC
NM_199436.2:c.1077+2_1077+3insC NP_955468.1:n.1077+2_1077+3insC