Canonical Allele Identifier: CA1242502326

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137240_32137242delinsCAT , CM000664.2:g.32137240_32137242delinsCAT	GRCh38
NC_000002.11:g.32362309_32362311delinsCAT , CM000664.1:g.32362309_32362311delinsCAT	GRCh37
NC_000002.10:g.32215813_32215815delinsCAT	NCBI36
NG_008730.1:g.78630_78632delinsCAT , LRG_714:g.78630_78632delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1153+52_*1153+54delinsCAT	ENSP00000515816.1:n.*1153+52_*1153+54delinsCAT
ENST00000315285.9:c.1493+52_1493+54delinsCAT MANE Select	ENSP00000320885.3:n.1493+52_1493+54delinsCAT
ENST00000621856.2:c.1490+52_1490+54delinsCAT	ENSP00000482496.2:n.1490+52_1490+54delinsCAT
ENST00000642281.1:c.1230+52_1230+54delinsCAT
ENST00000642455.1:c.1394+52_1394+54delinsCAT	ENSP00000493827.1:n.1394+52_1394+54delinsCAT
ENST00000642751.1:c.1267+52_1267+54delinsCAT
ENST00000642999.1:c.1235+52_1235+54delinsCAT	ENSP00000496589.1:n.1235+52_1235+54delinsCAT
ENST00000643327.1:c.560+52_560+54delinsCAT
ENST00000643334.1:c.1073+52_1073+54delinsCAT
ENST00000644408.1:c.1369+52_1369+54delinsCAT
ENST00000644954.1:c.1139+52_1139+54delinsCAT	ENSP00000494312.1:n.1139+52_1139+54delinsCAT
ENST00000645159.1:n.2230+52_2230+54delinsCAT
ENST00000645671.1:c.943+52_943+54delinsCAT
ENST00000645730.1:c.672+52_672+54delinsCAT
ENST00000646082.1:c.1139+52_1139+54delinsCAT
ENST00000646571.1:c.1397+52_1397+54delinsCAT	ENSP00000495015.1:n.1397+52_1397+54delinsCAT
ENST00000647007.1:n.1185+52_1185+54delinsCAT
ENST00000647133.1:c.993+52_993+54delinsCAT
ENST00000315285.7:c.1493+52_1493+54delinsCAT	ENSP00000320885.3:n.1493+52_1493+54delinsCAT
ENST00000345662.5:c.1397+52_1397+54delinsCAT	ENSP00000340817.1:n.1397+52_1397+54delinsCAT
ENST00000615843.4:c.1493+52_1493+54delinsCAT	ENSP00000480893.1:n.1493+52_1493+54delinsCAT
ENST00000621856.1:c.1235+52_1235+54delinsCAT	ENSP00000482496.1:n.1235+52_1235+54delinsCAT
NM_014946.3:c.1493+52_1493+54delinsCAT , LRG_714t1:c.1493+52_1493+54delinsCAT	NP_055761.2:n.1493+52_1493+54delinsCAT
NM_199436.1:c.1397+52_1397+54delinsCAT	NP_955468.1:n.1397+52_1397+54delinsCAT
XM_005264516.3:c.1490+52_1490+54delinsCAT	XP_005264573.1:n.1490+52_1490+54delinsCAT
XM_011533067.1:c.1493+52_1493+54delinsCAT	XP_011531369.1:n.1493+52_1493+54delinsCAT
NM_001363823.1:c.1490+52_1490+54delinsCAT	NP_001350752.1:n.1490+52_1490+54delinsCAT
NM_001363875.1:c.1394+52_1394+54delinsCAT	NP_001350804.1:n.1394+52_1394+54delinsCAT
XM_005264516.5:c.1490+52_1490+54delinsCAT	XP_005264573.1:n.1490+52_1490+54delinsCAT
XM_011533067.2:c.1493+52_1493+54delinsCAT	XP_011531369.1:n.1493+52_1493+54delinsCAT
XM_017004778.2:c.1397+52_1397+54delinsCAT	XP_016860267.1:n.1397+52_1397+54delinsCAT
NM_001363823.2:c.1490+52_1490+54delinsCAT	NP_001350752.1:n.1490+52_1490+54delinsCAT
NM_001363875.2:c.1394+52_1394+54delinsCAT	NP_001350804.1:n.1394+52_1394+54delinsCAT
NM_001377959.1:c.1397+52_1397+54delinsCAT	NP_001364888.1:n.1397+52_1397+54delinsCAT
NM_014946.4:c.1493+52_1493+54delinsCAT MANE Select	NP_055761.2:n.1493+52_1493+54delinsCAT
NM_199436.2:c.1397+52_1397+54delinsCAT	NP_955468.1:n.1397+52_1397+54delinsCAT