Canonical Allele Identifier: CA2582342361

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2627552
• ClinVar RCV Id: RCV003388815

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137136_32137141del , CM000664.2:g.32137136_32137141del	GRCh38
NC_000002.11:g.32362205_32362210del , CM000664.1:g.32362205_32362210del	GRCh37
NC_000002.10:g.32215709_32215714del	NCBI36
NG_008730.1:g.78526_78531del , LRG_714:g.78526_78531del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1101_*1106del	ENSP00000515816.1:n.*1101_*1106del
ENST00000315285.9:c.1441_1446del MANE Select	ENSP00000320885.3:p.Leu481_Val482del
ENST00000621856.2:c.1438_1443del	ENSP00000482496.2:p.Leu480_Val481del
ENST00000642281.1:c.1178_1183del
ENST00000642455.1:c.1342_1347del	ENSP00000493827.1:p.Leu448_Val449del
ENST00000642751.1:c.1215_1220del
ENST00000642999.1:c.1183_1188del	ENSP00000496589.1:p.Leu395_Val396del
ENST00000643327.1:c.508_513del
ENST00000643334.1:c.1021_1026del
ENST00000644408.1:c.1317_1322del
ENST00000644954.1:c.1087_1092del	ENSP00000494312.1:p.Leu363_Val364del
ENST00000645159.1:n.2178_2183del
ENST00000645671.1:c.891_896del
ENST00000645730.1:c.620_625del
ENST00000646082.1:c.1087_1092del
ENST00000646571.1:c.1345_1350del	ENSP00000495015.1:p.Leu449_Val450del
ENST00000647007.1:n.1133_1138del
ENST00000647133.1:c.941_946del
ENST00000315285.7:c.1441_1446del	ENSP00000320885.3:p.Leu481_Val482del
ENST00000345662.5:c.1345_1350del	ENSP00000340817.1:p.Leu449_Val450del
ENST00000615843.4:c.1441_1446del	ENSP00000480893.1:p.Leu481_Val482del
ENST00000621856.1:c.1183_1188del	ENSP00000482496.1:p.Leu395_Val396del
NM_014946.3:c.1441_1446del , LRG_714t1:c.1441_1446del	NP_055761.2:p.Leu481_Val482del
NM_199436.1:c.1345_1350del	NP_955468.1:p.Leu449_Val450del
XM_005264516.3:c.1438_1443del	XP_005264573.1:p.Leu480_Val481del
XM_011533067.1:c.1441_1446del	XP_011531369.1:p.Leu481_Val482del
NM_001363823.1:c.1438_1443del	NP_001350752.1:p.Leu480_Val481del
NM_001363875.1:c.1342_1347del	NP_001350804.1:p.Leu448_Val449del
XM_005264516.5:c.1438_1443del	XP_005264573.1:p.Leu480_Val481del
XM_011533067.2:c.1441_1446del	XP_011531369.1:p.Leu481_Val482del
XM_017004778.2:c.1345_1350del	XP_016860267.1:p.Leu449_Val450del
NM_001363823.2:c.1438_1443del	NP_001350752.1:p.Leu480_Val481del
NM_001363875.2:c.1342_1347del	NP_001350804.1:p.Leu448_Val449del
NM_001377959.1:c.1345_1350del	NP_001364888.1:p.Leu449_Val450del
NM_014946.4:c.1441_1446del MANE Select	NP_055761.2:p.Leu481_Val482del
NM_199436.2:c.1345_1350del	NP_955468.1:p.Leu449_Val450del