Canonical Allele Identifier: CA2586968971

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141931_32141933del , CM000664.2:g.32141931_32141933del	GRCh38
NC_000002.11:g.32367000_32367002del , CM000664.1:g.32367000_32367002del	GRCh37
NC_000002.10:g.32220504_32220506del	NCBI36
NG_008730.1:g.83321_83323del , LRG_714:g.83321_83323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1181_*1183del	ENSP00000515816.1:n.*1181_*1183del
ENST00000315285.9:c.1521_1523del MANE Select	ENSP00000320885.3:p.Leu508del
ENST00000621856.2:c.1518_1520del	ENSP00000482496.2:p.Leu507del
ENST00000642281.1:c.1258_1260del
ENST00000642455.1:c.1422_1424del	ENSP00000493827.1:p.Leu475del
ENST00000642751.1:c.1295_1297del
ENST00000642999.1:c.1263_1265del	ENSP00000496589.1:p.Leu422del
ENST00000643327.1:c.588_590del
ENST00000643334.1:c.1101_1103del
ENST00000644408.1:c.1397_1399del
ENST00000644954.1:c.1167_1169del	ENSP00000494312.1:p.Leu390del
ENST00000645159.1:n.2258_2260del
ENST00000645671.1:c.971_973del
ENST00000645730.1:c.700_702del
ENST00000646082.1:c.1167_1169del
ENST00000646571.1:c.1425_1427del	ENSP00000495015.1:p.Leu476del
ENST00000647007.1:n.1213_1215del
ENST00000647133.1:c.1021_1023del
ENST00000315285.7:c.1521_1523del	ENSP00000320885.3:p.Leu508del
ENST00000345662.5:c.1425_1427del	ENSP00000340817.1:p.Leu476del
ENST00000615843.4:c.1521_1523del	ENSP00000480893.1:p.Leu508del
ENST00000621856.1:c.1263_1265del	ENSP00000482496.1:p.Leu422del
NM_014946.3:c.1521_1523del , LRG_714t1:c.1521_1523del	NP_055761.2:p.Leu508del
NM_199436.1:c.1425_1427del	NP_955468.1:p.Leu476del
XM_005264516.3:c.1518_1520del	XP_005264573.1:p.Leu507del
XM_011533067.1:c.1521_1523del	XP_011531369.1:p.Leu508del
NM_001363823.1:c.1518_1520del	NP_001350752.1:p.Leu507del
NM_001363875.1:c.1422_1424del	NP_001350804.1:p.Leu475del
XM_005264516.5:c.1518_1520del	XP_005264573.1:p.Leu507del
XM_011533067.2:c.1521_1523del	XP_011531369.1:p.Leu508del
XM_017004778.2:c.1425_1427del	XP_016860267.1:p.Leu476del
NM_001363823.2:c.1518_1520del	NP_001350752.1:p.Leu507del
NM_001363875.2:c.1422_1424del	NP_001350804.1:p.Leu475del
NM_001377959.1:c.1425_1427del	NP_001364888.1:p.Leu476del
NM_014946.4:c.1521_1523del MANE Select	NP_055761.2:p.Leu508del
NM_199436.2:c.1425_1427del	NP_955468.1:p.Leu476del