Canonical Allele Identifier: CA2586964786

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137181_32137182insGG , CM000664.2:g.32137181_32137182insGG	GRCh38
NC_000002.11:g.32362250_32362251insGG , CM000664.1:g.32362250_32362251insGG	GRCh37
NC_000002.10:g.32215754_32215755insGG	NCBI36
NG_008730.1:g.78571_78572insGG , LRG_714:g.78571_78572insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1146_*1147insGG	ENSP00000515816.1:n.*1146_*1147insGG
ENST00000315285.9:c.1486_1487insGG MANE Select	ENSP00000320885.3:p.Val496GlyfsTer?
ENST00000621856.2:c.1483_1484insGG	ENSP00000482496.2:p.Val495GlyfsTer?
ENST00000642281.1:c.1223_1224insGG
ENST00000642455.1:c.1387_1388insGG	ENSP00000493827.1:p.Val463GlyfsTer?
ENST00000642751.1:c.1260_1261insGG
ENST00000642999.1:c.1228_1229insGG	ENSP00000496589.1:p.Val410GlyfsTer?
ENST00000643327.1:c.553_554insGG
ENST00000643334.1:c.1066_1067insGG
ENST00000644408.1:c.1362_1363insGG
ENST00000644954.1:c.1132_1133insGG	ENSP00000494312.1:p.Val378GlyfsTer?
ENST00000645159.1:n.2223_2224insGG
ENST00000645671.1:c.936_937insGG
ENST00000645730.1:c.665_666insGG
ENST00000646082.1:c.1132_1133insGG
ENST00000646571.1:c.1390_1391insGG	ENSP00000495015.1:p.Val464GlyfsTer?
ENST00000647007.1:n.1178_1179insGG
ENST00000647133.1:c.986_987insGG
ENST00000315285.7:c.1486_1487insGG	ENSP00000320885.3:p.Val496GlyfsTer?
ENST00000345662.5:c.1390_1391insGG	ENSP00000340817.1:p.Val464GlyfsTer?
ENST00000615843.4:c.1486_1487insGG	ENSP00000480893.1:p.Val496GlyfsTer?
ENST00000621856.1:c.1228_1229insGG	ENSP00000482496.1:p.Val410GlyfsTer?
NM_014946.3:c.1486_1487insGG , LRG_714t1:c.1486_1487insGG	NP_055761.2:p.Val496GlyfsTer?
NM_199436.1:c.1390_1391insGG	NP_955468.1:p.Val464GlyfsTer?
XM_005264516.3:c.1483_1484insGG	XP_005264573.1:p.Val495GlyfsTer?
XM_011533067.1:c.1486_1487insGG	XP_011531369.1:p.Val496GlyfsTer?
NM_001363823.1:c.1483_1484insGG	NP_001350752.1:p.Val495GlyfsTer?
NM_001363875.1:c.1387_1388insGG	NP_001350804.1:p.Val463GlyfsTer?
XM_005264516.5:c.1483_1484insGG	XP_005264573.1:p.Val495GlyfsTer?
XM_011533067.2:c.1486_1487insGG	XP_011531369.1:p.Val496GlyfsTer?
XM_017004778.2:c.1390_1391insGG	XP_016860267.1:p.Val464GlyfsTer?
NM_001363823.2:c.1483_1484insGG	NP_001350752.1:p.Val495GlyfsTer?
NM_001363875.2:c.1387_1388insGG	NP_001350804.1:p.Val463GlyfsTer?
NM_001377959.1:c.1390_1391insGG	NP_001364888.1:p.Val464GlyfsTer?
NM_014946.4:c.1486_1487insGG MANE Select	NP_055761.2:p.Val496GlyfsTer?
NM_199436.2:c.1390_1391insGG	NP_955468.1:p.Val464GlyfsTer?