Canonical Allele Identifier: CA2576930473

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137236del , CM000664.2:g.32137236del	GRCh38
NC_000002.11:g.32362305del , CM000664.1:g.32362305del	GRCh37
NC_000002.10:g.32215809del	NCBI36
NG_008730.1:g.78626del , LRG_714:g.78626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1153+48del	ENSP00000515816.1:n.*1153+48del
ENST00000315285.9:c.1493+48del MANE Select	ENSP00000320885.3:n.1493+48del
ENST00000621856.2:c.1490+48del	ENSP00000482496.2:n.1490+48del
ENST00000642281.1:c.1230+48del
ENST00000642455.1:c.1394+48del	ENSP00000493827.1:n.1394+48del
ENST00000642751.1:c.1267+48del
ENST00000642999.1:c.1235+48del	ENSP00000496589.1:n.1235+48del
ENST00000643327.1:c.560+48del
ENST00000643334.1:c.1073+48del
ENST00000644408.1:c.1369+48del
ENST00000644954.1:c.1139+48del	ENSP00000494312.1:n.1139+48del
ENST00000645159.1:n.2230+48del
ENST00000645671.1:c.943+48del
ENST00000645730.1:c.672+48del
ENST00000646082.1:c.1139+48del
ENST00000646571.1:c.1397+48del	ENSP00000495015.1:n.1397+48del
ENST00000647007.1:n.1185+48del
ENST00000647133.1:c.993+48del
ENST00000315285.7:c.1493+48del	ENSP00000320885.3:n.1493+48del
ENST00000345662.5:c.1397+48del	ENSP00000340817.1:n.1397+48del
ENST00000615843.4:c.1493+48del	ENSP00000480893.1:n.1493+48del
ENST00000621856.1:c.1235+48del	ENSP00000482496.1:n.1235+48del
NM_014946.3:c.1493+48del , LRG_714t1:c.1493+48del	NP_055761.2:n.1493+48del
NM_199436.1:c.1397+48del	NP_955468.1:n.1397+48del
XM_005264516.3:c.1490+48del	XP_005264573.1:n.1490+48del
XM_011533067.1:c.1493+48del	XP_011531369.1:n.1493+48del
NM_001363823.1:c.1490+48del	NP_001350752.1:n.1490+48del
NM_001363875.1:c.1394+48del	NP_001350804.1:n.1394+48del
XM_005264516.5:c.1490+48del	XP_005264573.1:n.1490+48del
XM_011533067.2:c.1493+48del	XP_011531369.1:n.1493+48del
XM_017004778.2:c.1397+48del	XP_016860267.1:n.1397+48del
NM_001363823.2:c.1490+48del	NP_001350752.1:n.1490+48del
NM_001363875.2:c.1394+48del	NP_001350804.1:n.1394+48del
NM_001377959.1:c.1397+48del	NP_001364888.1:n.1397+48del
NM_014946.4:c.1493+48del MANE Select	NP_055761.2:n.1493+48del
NM_199436.2:c.1397+48del	NP_955468.1:n.1397+48del