Canonical Allele Identifier: CA2658529317

Gene: SPAST

Linked Data

• gnomAD v4: 2-32137217-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137220del , CM000664.2:g.32137220del	GRCh38
NC_000002.11:g.32362289del , CM000664.1:g.32362289del	GRCh37
NC_000002.10:g.32215793del	NCBI36
NG_008730.1:g.78610del , LRG_714:g.78610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1153+32del	ENSP00000515816.1:n.*1153+32del
ENST00000315285.9:c.1493+32del MANE Select	ENSP00000320885.3:n.1493+32del
ENST00000621856.2:c.1490+32del	ENSP00000482496.2:n.1490+32del
ENST00000642281.1:c.1230+32del
ENST00000642455.1:c.1394+32del	ENSP00000493827.1:n.1394+32del
ENST00000642751.1:c.1267+32del
ENST00000642999.1:c.1235+32del	ENSP00000496589.1:n.1235+32del
ENST00000643327.1:c.560+32del
ENST00000643334.1:c.1073+32del
ENST00000644408.1:c.1369+32del
ENST00000644954.1:c.1139+32del	ENSP00000494312.1:n.1139+32del
ENST00000645159.1:n.2230+32del
ENST00000645671.1:c.943+32del
ENST00000645730.1:c.672+32del
ENST00000646082.1:c.1139+32del
ENST00000646571.1:c.1397+32del	ENSP00000495015.1:n.1397+32del
ENST00000647007.1:n.1185+32del
ENST00000647133.1:c.993+32del
ENST00000315285.7:c.1493+32del	ENSP00000320885.3:n.1493+32del
ENST00000345662.5:c.1397+32del	ENSP00000340817.1:n.1397+32del
ENST00000615843.4:c.1493+32del	ENSP00000480893.1:n.1493+32del
ENST00000621856.1:c.1235+32del	ENSP00000482496.1:n.1235+32del
NM_014946.3:c.1493+32del , LRG_714t1:c.1493+32del	NP_055761.2:n.1493+32del
NM_199436.1:c.1397+32del	NP_955468.1:n.1397+32del
XM_005264516.3:c.1490+32del	XP_005264573.1:n.1490+32del
XM_011533067.1:c.1493+32del	XP_011531369.1:n.1493+32del
NM_001363823.1:c.1490+32del	NP_001350752.1:n.1490+32del
NM_001363875.1:c.1394+32del	NP_001350804.1:n.1394+32del
XM_005264516.5:c.1490+32del	XP_005264573.1:n.1490+32del
XM_011533067.2:c.1493+32del	XP_011531369.1:n.1493+32del
XM_017004778.2:c.1397+32del	XP_016860267.1:n.1397+32del
NM_001363823.2:c.1490+32del	NP_001350752.1:n.1490+32del
NM_001363875.2:c.1394+32del	NP_001350804.1:n.1394+32del
NM_001377959.1:c.1397+32del	NP_001364888.1:n.1397+32del
NM_014946.4:c.1493+32del MANE Select	NP_055761.2:n.1493+32del
NM_199436.2:c.1397+32del	NP_955468.1:n.1397+32del