Canonical Allele Identifier: CA2586964787

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137187_32137188del , CM000664.2:g.32137187_32137188del	GRCh38
NC_000002.11:g.32362256_32362257del , CM000664.1:g.32362256_32362257del	GRCh37
NC_000002.10:g.32215760_32215761del	NCBI36
NG_008730.1:g.78577_78578del , LRG_714:g.78577_78578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1152_*1153del	ENSP00000515816.1:n.*1152_*1153del
ENST00000315285.9:c.1492_1493del MANE Select	ENSP00000320885.3:p.Arg498AlafsTer13
ENST00000621856.2:c.1489_1490del	ENSP00000482496.2:p.Arg497AlafsTer13
ENST00000642281.1:c.1229_1230del
ENST00000642455.1:c.1393_1394del	ENSP00000493827.1:p.Arg465AlafsTer13
ENST00000642751.1:c.1266_1267del
ENST00000642999.1:c.1234_1235del	ENSP00000496589.1:p.Arg412AlafsTer13
ENST00000643327.1:c.559_560del
ENST00000643334.1:c.1072_1073del
ENST00000644408.1:c.1368_1369del
ENST00000644954.1:c.1138_1139del	ENSP00000494312.1:p.Arg380AlafsTer13
ENST00000645159.1:n.2229_2230del
ENST00000645671.1:c.942_943del
ENST00000645730.1:c.671_672del
ENST00000646082.1:c.1138_1139del
ENST00000646571.1:c.1396_1397del	ENSP00000495015.1:p.Arg466AlafsTer13
ENST00000647007.1:n.1184_1185del
ENST00000647133.1:c.992_993del
ENST00000315285.7:c.1492_1493del	ENSP00000320885.3:p.Arg498AlafsTer13
ENST00000345662.5:c.1396_1397del	ENSP00000340817.1:p.Arg466AlafsTer13
ENST00000615843.4:c.1492_1493del	ENSP00000480893.1:p.Arg498AlafsTer13
ENST00000621856.1:c.1234_1235del	ENSP00000482496.1:p.Arg412AlafsTer13
NM_014946.3:c.1492_1493del , LRG_714t1:c.1492_1493del	NP_055761.2:p.Arg498AlafsTer13
NM_199436.1:c.1396_1397del	NP_955468.1:p.Arg466AlafsTer13
XM_005264516.3:c.1489_1490del	XP_005264573.1:p.Arg497AlafsTer13
XM_011533067.1:c.1492_1493del	XP_011531369.1:p.Arg498AlafsTer13
NM_001363823.1:c.1489_1490del	NP_001350752.1:p.Arg497AlafsTer13
NM_001363875.1:c.1393_1394del	NP_001350804.1:p.Arg465AlafsTer13
XM_005264516.5:c.1489_1490del	XP_005264573.1:p.Arg497AlafsTer13
XM_011533067.2:c.1492_1493del	XP_011531369.1:p.Arg498AlafsTer13
XM_017004778.2:c.1396_1397del	XP_016860267.1:p.Arg466AlafsTer13
NM_001363823.2:c.1489_1490del	NP_001350752.1:p.Arg497AlafsTer13
NM_001363875.2:c.1393_1394del	NP_001350804.1:p.Arg465AlafsTer13
NM_001377959.1:c.1396_1397del	NP_001364888.1:p.Arg466AlafsTer13
NM_014946.4:c.1492_1493del MANE Select	NP_055761.2:p.Arg498AlafsTer13
NM_199436.2:c.1396_1397del	NP_955468.1:p.Arg466AlafsTer13