Canonical Allele Identifier: CA2658527516

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128512-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128513_32128514del , CM000664.2:g.32128513_32128514del	GRCh38
NC_000002.11:g.32353582_32353583del , CM000664.1:g.32353582_32353583del	GRCh37
NC_000002.10:g.32207086_32207087del	NCBI36
NG_008730.1:g.69903_69904del , LRG_714:g.69903_69904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+34_*905+35del	ENSP00000515816.1:n.*905+34_*905+35del
ENST00000315285.9:c.1245+34_1245+35del MANE Select	ENSP00000320885.3:n.1245+34_1245+35del
ENST00000621856.2:c.1242+34_1242+35del	ENSP00000482496.2:n.1242+34_1242+35del
ENST00000642281.1:c.983-8050_983-8049del
ENST00000642455.1:c.1146+34_1146+35del	ENSP00000493827.1:n.1146+34_1146+35del
ENST00000642751.1:c.1019+34_1019+35del
ENST00000642999.1:c.987+34_987+35del	ENSP00000496589.1:n.987+34_987+35del
ENST00000643327.1:c.404+34_404+35del
ENST00000643334.1:c.825+34_825+35del
ENST00000644408.1:c.1121+34_1121+35del
ENST00000644954.1:c.891+34_891+35del	ENSP00000494312.1:n.891+34_891+35del
ENST00000645159.1:n.1982+34_1982+35del
ENST00000645550.1:n.492_493del
ENST00000645671.1:c.695+34_695+35del
ENST00000645730.1:c.592+34_592+35del
ENST00000646082.1:c.891+34_891+35del
ENST00000646571.1:c.1149+34_1149+35del	ENSP00000495015.1:n.1149+34_1149+35del
ENST00000647007.1:n.937+34_937+35del
ENST00000647133.1:c.745+34_745+35del
ENST00000315285.7:c.1245+34_1245+35del	ENSP00000320885.3:n.1245+34_1245+35del
ENST00000345662.5:c.1149+34_1149+35del	ENSP00000340817.1:n.1149+34_1149+35del
ENST00000615843.4:c.1245+34_1245+35del	ENSP00000480893.1:n.1245+34_1245+35del
ENST00000621856.1:c.987+34_987+35del	ENSP00000482496.1:n.987+34_987+35del
NM_014946.3:c.1245+34_1245+35del , LRG_714t1:c.1245+34_1245+35del	NP_055761.2:n.1245+34_1245+35del
NM_199436.1:c.1149+34_1149+35del	NP_955468.1:n.1149+34_1149+35del
XM_005264516.3:c.1242+34_1242+35del	XP_005264573.1:n.1242+34_1242+35del
XM_011533067.1:c.1245+34_1245+35del	XP_011531369.1:n.1245+34_1245+35del
NM_001363823.1:c.1242+34_1242+35del	NP_001350752.1:n.1242+34_1242+35del
NM_001363875.1:c.1146+34_1146+35del	NP_001350804.1:n.1146+34_1146+35del
XM_005264516.5:c.1242+34_1242+35del	XP_005264573.1:n.1242+34_1242+35del
XM_011533067.2:c.1245+34_1245+35del	XP_011531369.1:n.1245+34_1245+35del
XM_017004778.2:c.1149+34_1149+35del	XP_016860267.1:n.1149+34_1149+35del
NM_001363823.2:c.1242+34_1242+35del	NP_001350752.1:n.1242+34_1242+35del
NM_001363875.2:c.1146+34_1146+35del	NP_001350804.1:n.1146+34_1146+35del
NM_001377959.1:c.1149+34_1149+35del	NP_001364888.1:n.1149+34_1149+35del
NM_014946.4:c.1245+34_1245+35del MANE Select	NP_055761.2:n.1245+34_1245+35del
NM_199436.2:c.1149+34_1149+35del	NP_955468.1:n.1149+34_1149+35del