Canonical Allele Identifier: CA1242502038

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137129_32137131delinsCAG , CM000664.2:g.32137129_32137131delinsCAG	GRCh38
NC_000002.11:g.32362198_32362200delinsCAG , CM000664.1:g.32362198_32362200delinsCAG	GRCh37
NC_000002.10:g.32215702_32215704delinsCAG	NCBI36
NG_008730.1:g.78519_78521delinsCAG , LRG_714:g.78519_78521delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1094_*1096delinsCAG	ENSP00000515816.1:n.*1094_*1096delinsCAG
ENST00000315285.9:c.1434_1436delinsCAG MANE Select	ENSP00000320885.3:p.Asp478=
ENST00000621856.2:c.1431_1433delinsCAG	ENSP00000482496.2:p.Asp477=
ENST00000642281.1:c.1171_1173delinsCAG
ENST00000642455.1:c.1335_1337delinsCAG	ENSP00000493827.1:p.Asp445=
ENST00000642751.1:c.1208_1210delinsCAG
ENST00000642999.1:c.1176_1178delinsCAG	ENSP00000496589.1:p.Asp392=
ENST00000643327.1:c.501_503delinsCAG
ENST00000643334.1:c.1014_1016delinsCAG
ENST00000644408.1:c.1310_1312delinsCAG
ENST00000644954.1:c.1080_1082delinsCAG	ENSP00000494312.1:p.Asp360=
ENST00000645159.1:n.2171_2173delinsCAG
ENST00000645671.1:c.884_886delinsCAG
ENST00000645730.1:c.613_615delinsCAG
ENST00000646082.1:c.1080_1082delinsCAG
ENST00000646571.1:c.1338_1340delinsCAG	ENSP00000495015.1:p.Asp446=
ENST00000647007.1:n.1126_1128delinsCAG
ENST00000647133.1:c.934_936delinsCAG
ENST00000315285.7:c.1434_1436delinsCAG	ENSP00000320885.3:p.Asp478=
ENST00000345662.5:c.1338_1340delinsCAG	ENSP00000340817.1:p.Asp446=
ENST00000615843.4:c.1434_1436delinsCAG	ENSP00000480893.1:p.Asp478=
ENST00000621856.1:c.1176_1178delinsCAG	ENSP00000482496.1:p.Asp392=
NM_014946.3:c.1434_1436delinsCAG , LRG_714t1:c.1434_1436delinsCAG	NP_055761.2:p.Asp478=
NM_199436.1:c.1338_1340delinsCAG	NP_955468.1:p.Asp446=
XM_005264516.3:c.1431_1433delinsCAG	XP_005264573.1:p.Asp477=
XM_011533067.1:c.1434_1436delinsCAG	XP_011531369.1:p.Asp478=
NM_001363823.1:c.1431_1433delinsCAG	NP_001350752.1:p.Asp477=
NM_001363875.1:c.1335_1337delinsCAG	NP_001350804.1:p.Asp445=
XM_005264516.5:c.1431_1433delinsCAG	XP_005264573.1:p.Asp477=
XM_011533067.2:c.1434_1436delinsCAG	XP_011531369.1:p.Asp478=
XM_017004778.2:c.1338_1340delinsCAG	XP_016860267.1:p.Asp446=
NM_001363823.2:c.1431_1433delinsCAG	NP_001350752.1:p.Asp477=
NM_001363875.2:c.1335_1337delinsCAG	NP_001350804.1:p.Asp445=
NM_001377959.1:c.1338_1340delinsCAG	NP_001364888.1:p.Asp446=
NM_014946.4:c.1434_1436delinsCAG MANE Select	NP_055761.2:p.Asp478=
NM_199436.2:c.1338_1340delinsCAG	NP_955468.1:p.Asp446=