Canonical Allele Identifier: CA2580066406

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2109293
• ClinVar RCV Id: RCV003019978

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136640_32136641insTT , CM000664.2:g.32136640_32136641insTT	GRCh38
NC_000002.11:g.32361709_32361710insTT , CM000664.1:g.32361709_32361710insTT	GRCh37
NC_000002.10:g.32215213_32215214insTT	NCBI36
NG_008730.1:g.78030_78031insTT , LRG_714:g.78030_78031insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*981+2_*981+3insTT	ENSP00000515816.1:n.*981+2_*981+3insTT
ENST00000315285.9:c.1321+2_1321+3insTT MANE Select	ENSP00000320885.3:n.1321+2_1321+3insTT
ENST00000621856.2:c.1318+2_1318+3insTT	ENSP00000482496.2:n.1318+2_1318+3insTT
ENST00000642281.1:c.1058+2_1058+3insTT
ENST00000642455.1:c.1222+2_1222+3insTT	ENSP00000493827.1:n.1222+2_1222+3insTT
ENST00000642751.1:c.1095+2_1095+3insTT
ENST00000642999.1:c.1063+2_1063+3insTT	ENSP00000496589.1:n.1063+2_1063+3insTT
ENST00000643327.1:c.480+2_480+3insTT
ENST00000643334.1:c.901+2_901+3insTT
ENST00000644408.1:c.1197+2_1197+3insTT
ENST00000644954.1:c.967+2_967+3insTT	ENSP00000494312.1:n.967+2_967+3insTT
ENST00000645159.1:n.2058+2_2058+3insTT
ENST00000645671.1:c.771+2_771+3insTT
ENST00000645730.1:c.593-469_593-468insTT
ENST00000646082.1:c.967+2_967+3insTT
ENST00000646571.1:c.1225+2_1225+3insTT	ENSP00000495015.1:n.1225+2_1225+3insTT
ENST00000647007.1:n.1013+2_1013+3insTT
ENST00000647133.1:c.821+2_821+3insTT
ENST00000315285.7:c.1321+2_1321+3insTT	ENSP00000320885.3:n.1321+2_1321+3insTT
ENST00000345662.5:c.1225+2_1225+3insTT	ENSP00000340817.1:n.1225+2_1225+3insTT
ENST00000615843.4:c.1321+2_1321+3insTT	ENSP00000480893.1:n.1321+2_1321+3insTT
ENST00000621856.1:c.1063+2_1063+3insTT	ENSP00000482496.1:n.1063+2_1063+3insTT
NM_014946.3:c.1321+2_1321+3insTT , LRG_714t1:c.1321+2_1321+3insTT	NP_055761.2:n.1321+2_1321+3insTT
NM_199436.1:c.1225+2_1225+3insTT	NP_955468.1:n.1225+2_1225+3insTT
XM_005264516.3:c.1318+2_1318+3insTT	XP_005264573.1:n.1318+2_1318+3insTT
XM_011533067.1:c.1321+2_1321+3insTT	XP_011531369.1:n.1321+2_1321+3insTT
NM_001363823.1:c.1318+2_1318+3insTT	NP_001350752.1:n.1318+2_1318+3insTT
NM_001363875.1:c.1222+2_1222+3insTT	NP_001350804.1:n.1222+2_1222+3insTT
XM_005264516.5:c.1318+2_1318+3insTT	XP_005264573.1:n.1318+2_1318+3insTT
XM_011533067.2:c.1321+2_1321+3insTT	XP_011531369.1:n.1321+2_1321+3insTT
XM_017004778.2:c.1225+2_1225+3insTT	XP_016860267.1:n.1225+2_1225+3insTT
NM_001363823.2:c.1318+2_1318+3insTT	NP_001350752.1:n.1318+2_1318+3insTT
NM_001363875.2:c.1222+2_1222+3insTT	NP_001350804.1:n.1222+2_1222+3insTT
NM_001377959.1:c.1225+2_1225+3insTT	NP_001364888.1:n.1225+2_1225+3insTT
NM_014946.4:c.1321+2_1321+3insTT MANE Select	NP_055761.2:n.1321+2_1321+3insTT
NM_199436.2:c.1225+2_1225+3insTT	NP_955468.1:n.1225+2_1225+3insTT