Canonical Allele Identifier: CA2740092811

Gene: SPAST

Linked Data

• ClinVar Variation Id: 3027294
• ClinVar RCV Id: RCV003887687

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128418_32128420dup , CM000664.2:g.32128418_32128420dup	GRCh38
NC_000002.11:g.32353487_32353489dup , CM000664.1:g.32353487_32353489dup	GRCh37
NC_000002.10:g.32206991_32206993dup	NCBI36
NG_008730.1:g.69808_69810dup , LRG_714:g.69808_69810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*844_*846dup	ENSP00000515816.1:n.*844_*846dup
ENST00000315285.9:c.1184_1186dup MANE Select	ENSP00000320885.3:p.Val395_Ala396insVal
ENST00000621856.2:c.1181_1183dup	ENSP00000482496.2:p.Val394_Ala395insVal
ENST00000642281.1:c.983-8145_983-8143dup
ENST00000642455.1:c.1085_1087dup	ENSP00000493827.1:p.Val362_Ala363insVal
ENST00000642751.1:c.958_960dup
ENST00000642999.1:c.926_928dup	ENSP00000496589.1:p.Val309_Ala310insVal
ENST00000643327.1:c.343_345dup
ENST00000643334.1:c.764_766dup
ENST00000644408.1:c.1060_1062dup
ENST00000644954.1:c.830_832dup	ENSP00000494312.1:p.Val277_Ala278insVal
ENST00000645159.1:n.1921_1923dup
ENST00000645550.1:n.397_399dup
ENST00000645671.1:c.634_636dup
ENST00000645730.1:c.531_533dup
ENST00000646082.1:c.830_832dup
ENST00000646571.1:c.1088_1090dup	ENSP00000495015.1:p.Val363_Ala364insVal
ENST00000647007.1:n.876_878dup
ENST00000647133.1:c.684_686dup
ENST00000315285.7:c.1184_1186dup	ENSP00000320885.3:p.Val395_Ala396insVal
ENST00000345662.5:c.1088_1090dup	ENSP00000340817.1:p.Val363_Ala364insVal
ENST00000615843.4:c.1184_1186dup	ENSP00000480893.1:p.Val395_Ala396insVal
ENST00000621856.1:c.926_928dup	ENSP00000482496.1:p.Val309_Ala310insVal
NM_014946.3:c.1184_1186dup , LRG_714t1:c.1184_1186dup	NP_055761.2:p.Val395_Ala396insVal
NM_199436.1:c.1088_1090dup	NP_955468.1:p.Val363_Ala364insVal
XM_005264516.3:c.1181_1183dup	XP_005264573.1:p.Val394_Ala395insVal
XM_011533067.1:c.1184_1186dup	XP_011531369.1:p.Val395_Ala396insVal
NM_001363823.1:c.1181_1183dup	NP_001350752.1:p.Val394_Ala395insVal
NM_001363875.1:c.1085_1087dup	NP_001350804.1:p.Val362_Ala363insVal
XM_005264516.5:c.1181_1183dup	XP_005264573.1:p.Val394_Ala395insVal
XM_011533067.2:c.1184_1186dup	XP_011531369.1:p.Val395_Ala396insVal
XM_017004778.2:c.1088_1090dup	XP_016860267.1:p.Val363_Ala364insVal
NM_001363823.2:c.1181_1183dup	NP_001350752.1:p.Val394_Ala395insVal
NM_001363875.2:c.1085_1087dup	NP_001350804.1:p.Val362_Ala363insVal
NM_001377959.1:c.1088_1090dup	NP_001364888.1:p.Val363_Ala364insVal
NM_014946.4:c.1184_1186dup MANE Select	NP_055761.2:p.Val395_Ala396insVal
NM_199436.2:c.1088_1090dup	NP_955468.1:p.Val363_Ala364insVal