Canonical Allele Identifier: CA2576930028

Gene: SPAST

Linked Data

• gnomAD v4: 2-32089592-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089594del , CM000664.2:g.32089594del	GRCh38
NC_000002.11:g.32314663del , CM000664.1:g.32314663del	GRCh37
NC_000002.10:g.32168167del	NCBI36
NG_008730.1:g.30984del , LRG_714:g.30984del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*235del	ENSP00000515816.1:n.*235del
ENST00000315285.9:c.575del MANE Select	ENSP00000320885.3:p.Leu192TyrfsTer4
ENST00000621856.2:c.572del	ENSP00000482496.2:p.Leu191TyrfsTer4
ENST00000642281.1:c.459del
ENST00000642455.1:c.572del	ENSP00000493827.1:p.Leu191TyrfsTer4
ENST00000642751.1:c.445del
ENST00000642999.1:c.317del	ENSP00000496589.1:p.Leu106TyrfsTer4
ENST00000643334.1:c.160del
ENST00000644408.1:c.451del
ENST00000644954.1:c.317del	ENSP00000494312.1:p.Leu106TyrfsTer4
ENST00000645400.1:c.531del	ENSP00000496306.1:n.531del
ENST00000645671.1:c.37-9202del
ENST00000646082.1:c.409del
ENST00000646571.1:c.575del	ENSP00000495015.1:p.Leu192TyrfsTer4
ENST00000647007.1:n.272del
ENST00000647133.1:c.150del
ENST00000315285.7:c.575del	ENSP00000320885.3:p.Leu192TyrfsTer4
ENST00000345662.5:c.575del	ENSP00000340817.1:p.Leu192TyrfsTer4
ENST00000615843.4:c.575del	ENSP00000480893.1:p.Leu192TyrfsTer4
ENST00000621856.1:c.317del	ENSP00000482496.1:p.Leu106TyrfsTer4
NM_014946.3:c.575del , LRG_714t1:c.575del	NP_055761.2:p.Leu192TyrfsTer4
NM_199436.1:c.575del	NP_955468.1:p.Leu192TyrfsTer4
XM_005264516.3:c.572del	XP_005264573.1:p.Leu191TyrfsTer4
XM_011533067.1:c.575del	XP_011531369.1:p.Leu192TyrfsTer4
NM_001363823.1:c.572del	NP_001350752.1:p.Leu191TyrfsTer4
NM_001363875.1:c.572del	NP_001350804.1:p.Leu191TyrfsTer4
XM_005264516.5:c.572del	XP_005264573.1:p.Leu191TyrfsTer4
XM_011533067.2:c.575del	XP_011531369.1:p.Leu192TyrfsTer4
XM_017004778.2:c.575del	XP_016860267.1:p.Leu192TyrfsTer4
NM_001363823.2:c.572del	NP_001350752.1:p.Leu191TyrfsTer4
NM_001363875.2:c.572del	NP_001350804.1:p.Leu191TyrfsTer4
NM_001377959.1:c.575del	NP_001364888.1:p.Leu192TyrfsTer4
NM_014946.4:c.575del MANE Select	NP_055761.2:p.Leu192TyrfsTer4
NM_199436.2:c.575del	NP_955468.1:p.Leu192TyrfsTer4