Canonical Allele Identifier: CA913190206

Gene: SPAST

Linked Data

• ClinVar Variation Id: 617765
• ClinVar RCV Id: RCV000755019 ; RCV001091360
• dbSNP Id: rs1558336544

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136570_32136572del , CM000664.2:g.32136570_32136572del	GRCh38
NC_000002.11:g.32361639_32361641del , CM000664.1:g.32361639_32361641del	GRCh37
NC_000002.10:g.32215143_32215145del	NCBI36
NG_008730.1:g.77960_77962del , LRG_714:g.77960_77962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*913_*915del	ENSP00000515816.1:n.*913_*915del
ENST00000315285.9:c.1253_1255del MANE Select	ENSP00000320885.3:p.Glu418del
ENST00000621856.2:c.1250_1252del	ENSP00000482496.2:p.Glu417del
ENST00000642281.1:c.990_992del
ENST00000642455.1:c.1154_1156del	ENSP00000493827.1:p.Glu385del
ENST00000642751.1:c.1027_1029del
ENST00000642999.1:c.995_997del	ENSP00000496589.1:p.Glu332del
ENST00000643327.1:c.412_414del
ENST00000643334.1:c.833_835del
ENST00000644408.1:c.1129_1131del
ENST00000644954.1:c.899_901del	ENSP00000494312.1:p.Glu300del
ENST00000645159.1:n.1990_1992del
ENST00000645671.1:c.703_705del
ENST00000645730.1:c.593-539_593-537del
ENST00000646082.1:c.899_901del
ENST00000646571.1:c.1157_1159del	ENSP00000495015.1:p.Glu386del
ENST00000647007.1:n.945_947del
ENST00000647133.1:c.753_755del
ENST00000315285.7:c.1253_1255del	ENSP00000320885.3:p.Glu418del
ENST00000345662.5:c.1157_1159del	ENSP00000340817.1:p.Glu386del
ENST00000615843.4:c.1253_1255del	ENSP00000480893.1:p.Glu418del
ENST00000621856.1:c.995_997del	ENSP00000482496.1:p.Glu332del
NM_014946.3:c.1253_1255del , LRG_714t1:c.1253_1255del	NP_055761.2:p.Glu418del
NM_199436.1:c.1157_1159del	NP_955468.1:p.Glu386del
XM_005264516.3:c.1250_1252del	XP_005264573.1:p.Glu417del
XM_011533067.1:c.1253_1255del	XP_011531369.1:p.Glu418del
NM_001363823.1:c.1250_1252del	NP_001350752.1:p.Glu417del
NM_001363875.1:c.1154_1156del	NP_001350804.1:p.Glu385del
XM_005264516.5:c.1250_1252del	XP_005264573.1:p.Glu417del
XM_011533067.2:c.1253_1255del	XP_011531369.1:p.Glu418del
XM_017004778.2:c.1157_1159del	XP_016860267.1:p.Glu386del
NM_001363823.2:c.1250_1252del	NP_001350752.1:p.Glu417del
NM_001363875.2:c.1154_1156del	NP_001350804.1:p.Glu385del
NM_001377959.1:c.1157_1159del	NP_001364888.1:p.Glu386del
NM_014946.4:c.1253_1255del MANE Select	NP_055761.2:p.Glu418del
NM_199436.2:c.1157_1159del	NP_955468.1:p.Glu386del