Canonical Allele Identifier: CA1242501165

Gene: SPAST

Linked Data

• ClinVar Variation Id: 987247
• ClinVar RCV Id: RCV001268550
• dbSNP Id: rs1679543897

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136593_32136594del , CM000664.2:g.32136593_32136594del	GRCh38
NC_000002.11:g.32361662_32361663del , CM000664.1:g.32361662_32361663del	GRCh37
NC_000002.10:g.32215166_32215167del	NCBI36
NG_008730.1:g.77983_77984del , LRG_714:g.77983_77984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*936_*937del	ENSP00000515816.1:n.*936_*937del
ENST00000315285.9:c.1276_1277del MANE Select	ENSP00000320885.3:p.Leu426PhefsTer16
ENST00000621856.2:c.1273_1274del	ENSP00000482496.2:p.Leu425PhefsTer16
ENST00000642281.1:c.1013_1014del
ENST00000642455.1:c.1177_1178del	ENSP00000493827.1:p.Leu393PhefsTer16
ENST00000642751.1:c.1050_1051del
ENST00000642999.1:c.1018_1019del	ENSP00000496589.1:p.Leu340PhefsTer16
ENST00000643327.1:c.435_436del
ENST00000643334.1:c.856_857del
ENST00000644408.1:c.1152_1153del
ENST00000644954.1:c.922_923del	ENSP00000494312.1:p.Leu308PhefsTer16
ENST00000645159.1:n.2013_2014del
ENST00000645671.1:c.726_727del
ENST00000645730.1:c.593-516_593-515del
ENST00000646082.1:c.922_923del
ENST00000646571.1:c.1180_1181del	ENSP00000495015.1:p.Leu394PhefsTer16
ENST00000647007.1:n.968_969del
ENST00000647133.1:c.776_777del
ENST00000315285.7:c.1276_1277del	ENSP00000320885.3:p.Leu426PhefsTer16
ENST00000345662.5:c.1180_1181del	ENSP00000340817.1:p.Leu394PhefsTer16
ENST00000615843.4:c.1276_1277del	ENSP00000480893.1:p.Leu426PhefsTer16
ENST00000621856.1:c.1018_1019del	ENSP00000482496.1:p.Leu340PhefsTer16
NM_014946.3:c.1276_1277del , LRG_714t1:c.1276_1277del	NP_055761.2:p.Leu426PhefsTer16
NM_199436.1:c.1180_1181del	NP_955468.1:p.Leu394PhefsTer16
XM_005264516.3:c.1273_1274del	XP_005264573.1:p.Leu425PhefsTer16
XM_011533067.1:c.1276_1277del	XP_011531369.1:p.Leu426PhefsTer16
NM_001363823.1:c.1273_1274del	NP_001350752.1:p.Leu425PhefsTer16
NM_001363875.1:c.1177_1178del	NP_001350804.1:p.Leu393PhefsTer16
XM_005264516.5:c.1273_1274del	XP_005264573.1:p.Leu425PhefsTer16
XM_011533067.2:c.1276_1277del	XP_011531369.1:p.Leu426PhefsTer16
XM_017004778.2:c.1180_1181del	XP_016860267.1:p.Leu394PhefsTer16
NM_001363823.2:c.1273_1274del	NP_001350752.1:p.Leu425PhefsTer16
NM_001363875.2:c.1177_1178del	NP_001350804.1:p.Leu393PhefsTer16
NM_001377959.1:c.1180_1181del	NP_001364888.1:p.Leu394PhefsTer16
NM_014946.4:c.1276_1277del MANE Select	NP_055761.2:p.Leu426PhefsTer16
NM_199436.2:c.1180_1181del	NP_955468.1:p.Leu394PhefsTer16