Canonical Allele Identifier: CA2586964721

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128450_32128479del , CM000664.2:g.32128450_32128479del	GRCh38
NC_000002.11:g.32353519_32353548del , CM000664.1:g.32353519_32353548del	GRCh37
NC_000002.10:g.32207023_32207052del	NCBI36
NG_008730.1:g.69840_69869del , LRG_714:g.69840_69869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*876_*905del	ENSP00000515816.1:n.*876_*905del
ENST00000315285.9:c.1216_1245del MANE Select	ENSP00000320885.3:p.Ile406_Tyr415del
ENST00000621856.2:c.1213_1242del	ENSP00000482496.2:p.Ile405_Tyr414del
ENST00000642281.1:c.983-8113_983-8084del
ENST00000642455.1:c.1117_1146del	ENSP00000493827.1:p.Ile373_Tyr382del
ENST00000642751.1:c.990_1019del
ENST00000642999.1:c.958_987del	ENSP00000496589.1:p.Ile320_Tyr329del
ENST00000643327.1:c.375_404del
ENST00000643334.1:c.796_825del
ENST00000644408.1:c.1092_1121del
ENST00000644954.1:c.862_891del	ENSP00000494312.1:p.Ile288_Tyr297del
ENST00000645159.1:n.1953_1982del
ENST00000645550.1:n.429_458del
ENST00000645671.1:c.666_695del
ENST00000645730.1:c.563_592del
ENST00000646082.1:c.862_891del
ENST00000646571.1:c.1120_1149del	ENSP00000495015.1:p.Ile374_Tyr383del
ENST00000647007.1:n.908_937del
ENST00000647133.1:c.716_745del
ENST00000315285.7:c.1216_1245del	ENSP00000320885.3:p.Ile406_Tyr415del
ENST00000345662.5:c.1120_1149del	ENSP00000340817.1:p.Ile374_Tyr383del
ENST00000615843.4:c.1216_1245del	ENSP00000480893.1:p.Ile406_Tyr415del
ENST00000621856.1:c.958_987del	ENSP00000482496.1:p.Ile320_Tyr329del
NM_014946.3:c.1216_1245del , LRG_714t1:c.1216_1245del	NP_055761.2:p.Ile406_Tyr415del
NM_199436.1:c.1120_1149del	NP_955468.1:p.Ile374_Tyr383del
XM_005264516.3:c.1213_1242del	XP_005264573.1:p.Ile405_Tyr414del
XM_011533067.1:c.1216_1245del	XP_011531369.1:p.Ile406_Tyr415del
NM_001363823.1:c.1213_1242del	NP_001350752.1:p.Ile405_Tyr414del
NM_001363875.1:c.1117_1146del	NP_001350804.1:p.Ile373_Tyr382del
XM_005264516.5:c.1213_1242del	XP_005264573.1:p.Ile405_Tyr414del
XM_011533067.2:c.1216_1245del	XP_011531369.1:p.Ile406_Tyr415del
XM_017004778.2:c.1120_1149del	XP_016860267.1:p.Ile374_Tyr383del
NM_001363823.2:c.1213_1242del	NP_001350752.1:p.Ile405_Tyr414del
NM_001363875.2:c.1117_1146del	NP_001350804.1:p.Ile373_Tyr382del
NM_001377959.1:c.1120_1149del	NP_001364888.1:p.Ile374_Tyr383del
NM_014946.4:c.1216_1245del MANE Select	NP_055761.2:p.Ile406_Tyr415del
NM_199436.2:c.1120_1149del	NP_955468.1:p.Ile374_Tyr383del