Canonical Allele Identifier: CA1029032118

Gene: SPAST

Linked Data

• dbSNP Id: rs1679568997
• gnomAD v3: 2-32137199-TTA-T
• gnomAD v4: 2-32137199-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137203_32137204del , CM000664.2:g.32137203_32137204del	GRCh38
NC_000002.11:g.32362272_32362273del , CM000664.1:g.32362272_32362273del	GRCh37
NC_000002.10:g.32215776_32215777del	NCBI36
NG_008730.1:g.78593_78594del , LRG_714:g.78593_78594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1153+15_*1153+16del	ENSP00000515816.1:n.*1153+15_*1153+16del
ENST00000315285.9:c.1493+15_1493+16del MANE Select	ENSP00000320885.3:n.1493+15_1493+16del
ENST00000621856.2:c.1490+15_1490+16del	ENSP00000482496.2:n.1490+15_1490+16del
ENST00000642281.1:c.1230+15_1230+16del
ENST00000642455.1:c.1394+15_1394+16del	ENSP00000493827.1:n.1394+15_1394+16del
ENST00000642751.1:c.1267+15_1267+16del
ENST00000642999.1:c.1235+15_1235+16del	ENSP00000496589.1:n.1235+15_1235+16del
ENST00000643327.1:c.560+15_560+16del
ENST00000643334.1:c.1073+15_1073+16del
ENST00000644408.1:c.1369+15_1369+16del
ENST00000644954.1:c.1139+15_1139+16del	ENSP00000494312.1:n.1139+15_1139+16del
ENST00000645159.1:n.2230+15_2230+16del
ENST00000645671.1:c.943+15_943+16del
ENST00000645730.1:c.672+15_672+16del
ENST00000646082.1:c.1139+15_1139+16del
ENST00000646571.1:c.1397+15_1397+16del	ENSP00000495015.1:n.1397+15_1397+16del
ENST00000647007.1:n.1185+15_1185+16del
ENST00000647133.1:c.993+15_993+16del
ENST00000315285.7:c.1493+15_1493+16del	ENSP00000320885.3:n.1493+15_1493+16del
ENST00000345662.5:c.1397+15_1397+16del	ENSP00000340817.1:n.1397+15_1397+16del
ENST00000615843.4:c.1493+15_1493+16del	ENSP00000480893.1:n.1493+15_1493+16del
ENST00000621856.1:c.1235+15_1235+16del	ENSP00000482496.1:n.1235+15_1235+16del
NM_014946.3:c.1493+15_1493+16del , LRG_714t1:c.1493+15_1493+16del	NP_055761.2:n.1493+15_1493+16del
NM_199436.1:c.1397+15_1397+16del	NP_955468.1:n.1397+15_1397+16del
XM_005264516.3:c.1490+15_1490+16del	XP_005264573.1:n.1490+15_1490+16del
XM_011533067.1:c.1493+15_1493+16del	XP_011531369.1:n.1493+15_1493+16del
NM_001363823.1:c.1490+15_1490+16del	NP_001350752.1:n.1490+15_1490+16del
NM_001363875.1:c.1394+15_1394+16del	NP_001350804.1:n.1394+15_1394+16del
XM_005264516.5:c.1490+15_1490+16del	XP_005264573.1:n.1490+15_1490+16del
XM_011533067.2:c.1493+15_1493+16del	XP_011531369.1:n.1493+15_1493+16del
XM_017004778.2:c.1397+15_1397+16del	XP_016860267.1:n.1397+15_1397+16del
NM_001363823.2:c.1490+15_1490+16del	NP_001350752.1:n.1490+15_1490+16del
NM_001363875.2:c.1394+15_1394+16del	NP_001350804.1:n.1394+15_1394+16del
NM_001377959.1:c.1397+15_1397+16del	NP_001364888.1:n.1397+15_1397+16del
NM_014946.4:c.1493+15_1493+16del MANE Select	NP_055761.2:n.1493+15_1493+16del
NM_199436.2:c.1397+15_1397+16del	NP_955468.1:n.1397+15_1397+16del