Canonical Allele Identifier: CA916504285

Gene: SPAST

Linked Data

• dbSNP Id: rs1558606269

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064221_32064225del , CM000664.2:g.32064221_32064225del	GRCh38
NC_000002.11:g.32289290_32289294del , CM000664.1:g.32289290_32289294del	GRCh37
NC_000002.10:g.32142794_32142798del	NCBI36
NG_008730.1:g.5611_5615del , LRG_714:g.5611_5615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.390_394del	ENSP00000515816.1:p.Leu131HisfsTer3
ENST00000315285.9:c.390_394del MANE Select	ENSP00000320885.3:p.Leu131HisfsTer3
ENST00000621856.2:c.390_394del	ENSP00000482496.2:p.Leu131HisfsTer3
ENST00000642281.1:c.274_278del
ENST00000642455.1:c.390_394del	ENSP00000493827.1:p.Leu131HisfsTer3
ENST00000642751.1:c.260_264del
ENST00000642999.1:c.132_136del	ENSP00000496589.1:p.Leu45HisfsTer3
ENST00000644408.1:c.266_270del
ENST00000644954.1:c.132_136del	ENSP00000494312.1:p.Leu45HisfsTer3
ENST00000645400.1:c.231_235del	ENSP00000496306.1:p.Leu78HisfsTer3
ENST00000645671.1:c.11_15del
ENST00000646082.1:c.224_228del
ENST00000646571.1:c.390_394del	ENSP00000495015.1:p.Leu131HisfsTer3
ENST00000315285.7:c.390_394del	ENSP00000320885.3:p.Leu131HisfsTer3
ENST00000345662.5:c.390_394del	ENSP00000340817.1:p.Leu131HisfsTer3
ENST00000615843.4:c.390_394del	ENSP00000480893.1:p.Leu131HisfsTer3
ENST00000621856.1:c.132_136del	ENSP00000482496.1:p.Leu45HisfsTer3
NM_014946.3:c.390_394del , LRG_714t1:c.390_394del	NP_055761.2:p.Leu131HisfsTer3
NM_199436.1:c.390_394del	NP_955468.1:p.Leu131HisfsTer3
XM_005264516.3:c.390_394del	XP_005264573.1:p.Leu131HisfsTer3
XM_011533067.1:c.390_394del	XP_011531369.1:p.Leu131HisfsTer3
NM_001363823.1:c.390_394del	NP_001350752.1:p.Leu131HisfsTer3
NM_001363875.1:c.390_394del	NP_001350804.1:p.Leu131HisfsTer3
XM_005264516.5:c.390_394del	XP_005264573.1:p.Leu131HisfsTer3
XM_011533067.2:c.390_394del	XP_011531369.1:p.Leu131HisfsTer3
XM_017004778.2:c.390_394del	XP_016860267.1:p.Leu131HisfsTer3
NM_001363823.2:c.390_394del	NP_001350752.1:p.Leu131HisfsTer3
NM_001363875.2:c.390_394del	NP_001350804.1:p.Leu131HisfsTer3
NM_001377959.1:c.390_394del	NP_001364888.1:p.Leu131HisfsTer3
NM_014946.4:c.390_394del MANE Select	NP_055761.2:p.Leu131HisfsTer3
NM_199436.2:c.390_394del	NP_955468.1:p.Leu131HisfsTer3