Canonical Allele Identifier: CA2499215918

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32143406_32143408del , CM000664.2:g.32143406_32143408del	GRCh38
NC_000002.11:g.32368475_32368477del , CM000664.1:g.32368475_32368477del	GRCh37
NC_000002.10:g.32221979_32221981del	NCBI36
NG_008730.1:g.84796_84798del , LRG_714:g.84796_84798del

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1607_1609del MANE Select	NP_055761.2:p.Gln536del
ENST00000315285.9:c.1607_1609del MANE Select	ENSP00000320885.3:p.Gln536del
NM_001363823.1:c.1604_1606del	NP_001350752.1:p.Gln535del
NM_001363823.2:c.1604_1606del	NP_001350752.1:p.Gln535del
NM_001363875.1:c.1508_1510del	NP_001350804.1:p.Gln503del
NM_001363875.2:c.1508_1510del	NP_001350804.1:p.Gln503del
NM_001377959.1:c.1511_1513del	NP_001364888.1:p.Gln504del
NM_014946.3:c.1607_1609del , LRG_714t1:c.1607_1609del	NP_055761.2:p.Gln536del
NM_199436.1:c.1511_1513del	NP_955468.1:p.Gln504del
NM_199436.2:c.1511_1513del	NP_955468.1:p.Gln504del
ENST00000315285.7:c.1607_1609del	ENSP00000320885.3:p.Gln536del
ENST00000345662.5:c.1511_1513del	ENSP00000340817.1:p.Gln504del
ENST00000615843.4:c.1607_1609del	ENSP00000480893.1:p.Gln536del
ENST00000621856.1:c.1349_1351del	ENSP00000482496.1:p.Gln450del
ENST00000621856.2:c.1604_1606del	ENSP00000482496.2:p.Gln535del
ENST00000642281.1:c.1344_1346del
ENST00000642455.1:c.1508_1510del	ENSP00000493827.1:p.Gln503del
ENST00000642751.1:c.1381_1383del
ENST00000642999.1:c.1349_1351del	ENSP00000496589.1:p.Gln450del
ENST00000643334.1:c.1187_1189del
ENST00000644408.1:c.1483_1485del
ENST00000644954.1:c.1253_1255del	ENSP00000494312.1:p.Gln418del
ENST00000645159.1:n.2344_2346del
ENST00000645671.1:c.1057_1059del
ENST00000645730.1:c.786_788del
ENST00000646082.1:c.1253_1255del
ENST00000646571.1:c.1511_1513del	ENSP00000495015.1:p.Gln504del
ENST00000647007.1:n.1299_1301del
ENST00000647133.1:c.1107_1109del
ENST00000704289.1:c.*1267_*1269del	ENSP00000515816.1:n.*1267_*1269del
XM_005264516.3:c.1604_1606del	XP_005264573.1:p.Gln535del
XM_005264516.5:c.1604_1606del	XP_005264573.1:p.Gln535del
XM_011533067.1:c.1607_1609del	XP_011531369.1:p.Gln536del
XM_011533067.2:c.1607_1609del	XP_011531369.1:p.Gln536del
XM_017004778.2:c.1511_1513del	XP_016860267.1:p.Gln504del