Canonical Allele Identifier: CA2658529262

Gene: SPAST

Linked Data

• gnomAD v4: 2-32137010-G-GTATATA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137015_32137016insATATAT , CM000664.2:g.32137015_32137016insATATAT	GRCh38
NC_000002.11:g.32362084_32362085insATATAT , CM000664.1:g.32362084_32362085insATATAT	GRCh37
NC_000002.10:g.32215588_32215589insATATAT	NCBI36
NG_008730.1:g.78405_78406insATATAT , LRG_714:g.78405_78406insATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1073+47_*1073+48insATATAT	ENSP00000515816.1:n.*1073+47_*1073+48insATATAT
ENST00000315285.9:c.1413+47_1413+48insATATAT MANE Select	ENSP00000320885.3:n.1413+47_1413+48insATATAT
ENST00000621856.2:c.1410+47_1410+48insATATAT	ENSP00000482496.2:n.1410+47_1410+48insATATAT
ENST00000642281.1:c.1150+47_1150+48insATATAT
ENST00000642455.1:c.1314+47_1314+48insATATAT	ENSP00000493827.1:n.1314+47_1314+48insATATAT
ENST00000642751.1:c.1187+47_1187+48insATATAT
ENST00000642999.1:c.1155+47_1155+48insATATAT	ENSP00000496589.1:n.1155+47_1155+48insATATAT
ENST00000643327.1:c.481-94_481-93insATATAT
ENST00000643334.1:c.993+47_993+48insATATAT
ENST00000644408.1:c.1289+47_1289+48insATATAT
ENST00000644954.1:c.1059+47_1059+48insATATAT	ENSP00000494312.1:n.1059+47_1059+48insATATAT
ENST00000645159.1:n.2150+47_2150+48insATATAT
ENST00000645671.1:c.863+47_863+48insATATAT
ENST00000645730.1:c.593-94_593-93insATATAT
ENST00000646082.1:c.1059+47_1059+48insATATAT
ENST00000646571.1:c.1317+47_1317+48insATATAT	ENSP00000495015.1:n.1317+47_1317+48insATATAT
ENST00000647007.1:n.1105+47_1105+48insATATAT
ENST00000647133.1:c.913+47_913+48insATATAT
ENST00000315285.7:c.1413+47_1413+48insATATAT	ENSP00000320885.3:n.1413+47_1413+48insATATAT
ENST00000345662.5:c.1317+47_1317+48insATATAT	ENSP00000340817.1:n.1317+47_1317+48insATATAT
ENST00000615843.4:c.1413+47_1413+48insATATAT	ENSP00000480893.1:n.1413+47_1413+48insATATAT
ENST00000621856.1:c.1155+47_1155+48insATATAT	ENSP00000482496.1:n.1155+47_1155+48insATATAT
NM_014946.3:c.1413+47_1413+48insATATAT , LRG_714t1:c.1413+47_1413+48insATATAT	NP_055761.2:n.1413+47_1413+48insATATAT
NM_199436.1:c.1317+47_1317+48insATATAT	NP_955468.1:n.1317+47_1317+48insATATAT
XM_005264516.3:c.1410+47_1410+48insATATAT	XP_005264573.1:n.1410+47_1410+48insATATAT
XM_011533067.1:c.1413+47_1413+48insATATAT	XP_011531369.1:n.1413+47_1413+48insATATAT
NM_001363823.1:c.1410+47_1410+48insATATAT	NP_001350752.1:n.1410+47_1410+48insATATAT
NM_001363875.1:c.1314+47_1314+48insATATAT	NP_001350804.1:n.1314+47_1314+48insATATAT
XM_005264516.5:c.1410+47_1410+48insATATAT	XP_005264573.1:n.1410+47_1410+48insATATAT
XM_011533067.2:c.1413+47_1413+48insATATAT	XP_011531369.1:n.1413+47_1413+48insATATAT
XM_017004778.2:c.1317+47_1317+48insATATAT	XP_016860267.1:n.1317+47_1317+48insATATAT
NM_001363823.2:c.1410+47_1410+48insATATAT	NP_001350752.1:n.1410+47_1410+48insATATAT
NM_001363875.2:c.1314+47_1314+48insATATAT	NP_001350804.1:n.1314+47_1314+48insATATAT
NM_001377959.1:c.1317+47_1317+48insATATAT	NP_001364888.1:n.1317+47_1317+48insATATAT
NM_014946.4:c.1413+47_1413+48insATATAT MANE Select	NP_055761.2:n.1413+47_1413+48insATATAT
NM_199436.2:c.1317+47_1317+48insATATAT	NP_955468.1:n.1317+47_1317+48insATATAT