Canonical Allele Identifier: CA2658519898

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2861698
• ClinVar RCV Id: RCV003633031
• gnomAD v4: 2-32064047-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064048del , CM000664.2:g.32064048del	GRCh38
NC_000002.11:g.32289117del , CM000664.1:g.32289117del	GRCh37
NC_000002.10:g.32142621del	NCBI36
NG_008730.1:g.5438del , LRG_714:g.5438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.217del	ENSP00000515816.1:p.Leu73SerfsTer?
ENST00000315285.9:c.217del MANE Select	ENSP00000320885.3:p.Leu73SerfsTer?
ENST00000621856.2:c.217del	ENSP00000482496.2:p.Leu73SerfsTer?
ENST00000642281.1:c.101del
ENST00000642455.1:c.217del	ENSP00000493827.1:p.Leu73SerfsTer?
ENST00000642751.1:c.87del
ENST00000642999.1:c.-42del	ENSP00000496589.1:n.-42del
ENST00000644408.1:c.93del
ENST00000644954.1:c.-42del	ENSP00000494312.1:n.-42del
ENST00000645400.1:c.58del	ENSP00000496306.1:p.Leu20SerfsTer?
ENST00000646082.1:c.51del
ENST00000646571.1:c.217del	ENSP00000495015.1:p.Leu73SerfsTer?
ENST00000315285.7:c.217del	ENSP00000320885.3:p.Leu73SerfsTer?
ENST00000345662.5:c.217del	ENSP00000340817.1:p.Leu73SerfsTer?
ENST00000615843.4:c.217del	ENSP00000480893.1:p.Leu73SerfsTer?
ENST00000621856.1:c.-42del	ENSP00000482496.1:n.-42del
NM_014946.3:c.217del , LRG_714t1:c.217del	NP_055761.2:p.Leu73SerfsTer?
NM_199436.1:c.217del	NP_955468.1:p.Leu73SerfsTer?
XM_005264516.3:c.217del	XP_005264573.1:p.Leu73SerfsTer?
XM_011533067.1:c.217del	XP_011531369.1:p.Leu73SerfsTer?
NM_001363823.1:c.217del	NP_001350752.1:p.Leu73SerfsTer?
NM_001363875.1:c.217del	NP_001350804.1:p.Leu73SerfsTer?
XM_005264516.5:c.217del	XP_005264573.1:p.Leu73SerfsTer?
XM_011533067.2:c.217del	XP_011531369.1:p.Leu73SerfsTer?
XM_017004778.2:c.217del	XP_016860267.1:p.Leu73SerfsTer?
NM_001363823.2:c.217del	NP_001350752.1:p.Leu73SerfsTer?
NM_001363875.2:c.217del	NP_001350804.1:p.Leu73SerfsTer?
NM_001377959.1:c.217del	NP_001364888.1:p.Leu73SerfsTer?
NM_014946.4:c.217del MANE Select	NP_055761.2:p.Leu73SerfsTer?
NM_199436.2:c.217del	NP_955468.1:p.Leu73SerfsTer?