Canonical Allele Identifier: CA1139656829

Gene: SPAST

Linked Data

• ClinVar Variation Id: 987329
• ClinVar RCV Id: RCV001268664
• dbSNP Id: rs1679916151

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147232_32147242del , CM000664.2:g.32147232_32147242del	GRCh38
NC_000002.11:g.32372301_32372311del , CM000664.1:g.32372301_32372311del	GRCh37
NC_000002.10:g.32225805_32225815del	NCBI36
NG_008730.1:g.88622_88632del , LRG_714:g.88622_88632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1362_*1372del	ENSP00000515816.1:n.*1362_*1372del
ENST00000315285.9:c.1702_1712del MANE Select	ENSP00000320885.3:p.Gln568TyrfsTer5
ENST00000621856.2:c.1699_1709del	ENSP00000482496.2:p.Gln567TyrfsTer5
ENST00000642281.1:c.1439_1449del
ENST00000642455.1:c.1603_1613del	ENSP00000493827.1:p.Gln535TyrfsTer5
ENST00000642751.1:c.1405_1415del
ENST00000642999.1:c.1444_1454del	ENSP00000496589.1:p.Gln482TyrfsTer5
ENST00000643334.1:c.1282_1292del
ENST00000644408.1:c.1601_1611del
ENST00000644954.1:c.1348_1358del	ENSP00000494312.1:p.Gln450TyrfsTer5
ENST00000645159.1:n.2439_2449del
ENST00000645671.1:c.1081_1091del
ENST00000645730.1:c.881_891del
ENST00000646082.1:c.1348_1358del
ENST00000646571.1:c.1606_1616del	ENSP00000495015.1:p.Gln536TyrfsTer5
ENST00000647007.1:n.1394_1404del
ENST00000647133.1:c.1202_1212del
ENST00000315285.7:c.1702_1712del	ENSP00000320885.3:p.Gln568TyrfsTer5
ENST00000345662.5:c.1606_1616del	ENSP00000340817.1:p.Gln536TyrfsTer5
ENST00000615843.4:c.1702_1712del	ENSP00000480893.1:p.Gln568TyrfsTer5
ENST00000621856.1:c.1444_1454del	ENSP00000482496.1:p.Gln482TyrfsTer5
NM_014946.3:c.1702_1712del , LRG_714t1:c.1702_1712del	NP_055761.2:p.Gln568TyrfsTer5
NM_199436.1:c.1606_1616del	NP_955468.1:p.Gln536TyrfsTer5
XM_005264516.3:c.1699_1709del	XP_005264573.1:p.Gln567TyrfsTer5
XM_011533067.1:c.1631_1641del	XP_011531369.1:p.Thr544IlefsTer7
NM_001363823.1:c.1699_1709del	NP_001350752.1:p.Gln567TyrfsTer5
NM_001363875.1:c.1603_1613del	NP_001350804.1:p.Gln535TyrfsTer5
XM_005264516.5:c.1699_1709del	XP_005264573.1:p.Gln567TyrfsTer5
XM_011533067.2:c.1631_1641del	XP_011531369.1:p.Thr544IlefsTer7
XM_017004778.2:c.1535_1545del	XP_016860267.1:p.Thr512IlefsTer7
NM_001363823.2:c.1699_1709del	NP_001350752.1:p.Gln567TyrfsTer5
NM_001363875.2:c.1603_1613del	NP_001350804.1:p.Gln535TyrfsTer5
NM_001377959.1:c.1535_1545del	NP_001364888.1:p.Thr512IlefsTer7
NM_014946.4:c.1702_1712del MANE Select	NP_055761.2:p.Gln568TyrfsTer5
NM_199436.2:c.1606_1616del	NP_955468.1:p.Gln536TyrfsTer5