Canonical Allele Identifier: CA1242501559

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136891_32136893delinsCTT , CM000664.2:g.32136891_32136893delinsCTT	GRCh38
NC_000002.11:g.32361960_32361962delinsCTT , CM000664.1:g.32361960_32361962delinsCTT	GRCh37
NC_000002.10:g.32215464_32215466delinsCTT	NCBI36
NG_008730.1:g.78281_78283delinsCTT , LRG_714:g.78281_78283delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*996_*998delinsCTT	ENSP00000515816.1:n.*996_*998delinsCTT
ENST00000315285.9:c.1336_1338delinsCTT MANE Select	ENSP00000320885.3:p.Leu446=
ENST00000621856.2:c.1333_1335delinsCTT	ENSP00000482496.2:p.Leu445=
ENST00000642281.1:c.1073_1075delinsCTT
ENST00000642455.1:c.1237_1239delinsCTT	ENSP00000493827.1:p.Leu413=
ENST00000642751.1:c.1110_1112delinsCTT
ENST00000642999.1:c.1078_1080delinsCTT	ENSP00000496589.1:p.Leu360=
ENST00000643327.1:c.481-218_481-216delinsCTT
ENST00000643334.1:c.916_918delinsCTT
ENST00000644408.1:c.1212_1214delinsCTT
ENST00000644954.1:c.982_984delinsCTT	ENSP00000494312.1:p.Leu328=
ENST00000645159.1:n.2073_2075delinsCTT
ENST00000645671.1:c.786_788delinsCTT
ENST00000645730.1:c.593-218_593-216delinsCTT
ENST00000646082.1:c.982_984delinsCTT
ENST00000646571.1:c.1240_1242delinsCTT	ENSP00000495015.1:p.Leu414=
ENST00000647007.1:n.1028_1030delinsCTT
ENST00000647133.1:c.836_838delinsCTT
ENST00000315285.7:c.1336_1338delinsCTT	ENSP00000320885.3:p.Leu446=
ENST00000345662.5:c.1240_1242delinsCTT	ENSP00000340817.1:p.Leu414=
ENST00000615843.4:c.1336_1338delinsCTT	ENSP00000480893.1:p.Leu446=
ENST00000621856.1:c.1078_1080delinsCTT	ENSP00000482496.1:p.Leu360=
NM_014946.3:c.1336_1338delinsCTT , LRG_714t1:c.1336_1338delinsCTT	NP_055761.2:p.Leu446=
NM_199436.1:c.1240_1242delinsCTT	NP_955468.1:p.Leu414=
XM_005264516.3:c.1333_1335delinsCTT	XP_005264573.1:p.Leu445=
XM_011533067.1:c.1336_1338delinsCTT	XP_011531369.1:p.Leu446=
NM_001363823.1:c.1333_1335delinsCTT	NP_001350752.1:p.Leu445=
NM_001363875.1:c.1237_1239delinsCTT	NP_001350804.1:p.Leu413=
XM_005264516.5:c.1333_1335delinsCTT	XP_005264573.1:p.Leu445=
XM_011533067.2:c.1336_1338delinsCTT	XP_011531369.1:p.Leu446=
XM_017004778.2:c.1240_1242delinsCTT	XP_016860267.1:p.Leu414=
NM_001363823.2:c.1333_1335delinsCTT	NP_001350752.1:p.Leu445=
NM_001363875.2:c.1237_1239delinsCTT	NP_001350804.1:p.Leu413=
NM_001377959.1:c.1240_1242delinsCTT	NP_001364888.1:p.Leu414=
NM_014946.4:c.1336_1338delinsCTT MANE Select	NP_055761.2:p.Leu446=
NM_199436.2:c.1240_1242delinsCTT	NP_955468.1:p.Leu414=