Canonical Allele Identifier: CA2658527524

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128529-GTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128530_32128532del , CM000664.2:g.32128530_32128532del	GRCh38
NC_000002.11:g.32353599_32353601del , CM000664.1:g.32353599_32353601del	GRCh37
NC_000002.10:g.32207103_32207105del	NCBI36
NG_008730.1:g.69920_69922del , LRG_714:g.69920_69922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*905+51_*905+53del	ENSP00000515816.1:n.*905+51_*905+53del
ENST00000315285.9:c.1245+51_1245+53del MANE Select	ENSP00000320885.3:n.1245+51_1245+53del
ENST00000621856.2:c.1242+51_1242+53del	ENSP00000482496.2:n.1242+51_1242+53del
ENST00000642281.1:c.983-8033_983-8031del
ENST00000642455.1:c.1146+51_1146+53del	ENSP00000493827.1:n.1146+51_1146+53del
ENST00000642751.1:c.1019+51_1019+53del
ENST00000642999.1:c.987+51_987+53del	ENSP00000496589.1:n.987+51_987+53del
ENST00000643327.1:c.404+51_404+53del
ENST00000643334.1:c.825+51_825+53del
ENST00000644408.1:c.1121+51_1121+53del
ENST00000644954.1:c.891+51_891+53del	ENSP00000494312.1:n.891+51_891+53del
ENST00000645159.1:n.1982+51_1982+53del
ENST00000645550.1:n.509_511del
ENST00000645671.1:c.695+51_695+53del
ENST00000645730.1:c.592+51_592+53del
ENST00000646082.1:c.891+51_891+53del
ENST00000646571.1:c.1149+51_1149+53del	ENSP00000495015.1:n.1149+51_1149+53del
ENST00000647007.1:n.937+51_937+53del
ENST00000647133.1:c.745+51_745+53del
ENST00000315285.7:c.1245+51_1245+53del	ENSP00000320885.3:n.1245+51_1245+53del
ENST00000345662.5:c.1149+51_1149+53del	ENSP00000340817.1:n.1149+51_1149+53del
ENST00000615843.4:c.1245+51_1245+53del	ENSP00000480893.1:n.1245+51_1245+53del
ENST00000621856.1:c.987+51_987+53del	ENSP00000482496.1:n.987+51_987+53del
NM_014946.3:c.1245+51_1245+53del , LRG_714t1:c.1245+51_1245+53del	NP_055761.2:n.1245+51_1245+53del
NM_199436.1:c.1149+51_1149+53del	NP_955468.1:n.1149+51_1149+53del
XM_005264516.3:c.1242+51_1242+53del	XP_005264573.1:n.1242+51_1242+53del
XM_011533067.1:c.1245+51_1245+53del	XP_011531369.1:n.1245+51_1245+53del
NM_001363823.1:c.1242+51_1242+53del	NP_001350752.1:n.1242+51_1242+53del
NM_001363875.1:c.1146+51_1146+53del	NP_001350804.1:n.1146+51_1146+53del
XM_005264516.5:c.1242+51_1242+53del	XP_005264573.1:n.1242+51_1242+53del
XM_011533067.2:c.1245+51_1245+53del	XP_011531369.1:n.1245+51_1245+53del
XM_017004778.2:c.1149+51_1149+53del	XP_016860267.1:n.1149+51_1149+53del
NM_001363823.2:c.1242+51_1242+53del	NP_001350752.1:n.1242+51_1242+53del
NM_001363875.2:c.1146+51_1146+53del	NP_001350804.1:n.1146+51_1146+53del
NM_001377959.1:c.1149+51_1149+53del	NP_001364888.1:n.1149+51_1149+53del
NM_014946.4:c.1245+51_1245+53del MANE Select	NP_055761.2:n.1245+51_1245+53del
NM_199436.2:c.1149+51_1149+53del	NP_955468.1:n.1149+51_1149+53del