Canonical Allele Identifier: CA2658527468

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128376-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128378del , CM000664.2:g.32128378del	GRCh38
NC_000002.11:g.32353447del , CM000664.1:g.32353447del	GRCh37
NC_000002.10:g.32206951del	NCBI36
NG_008730.1:g.69768del , LRG_714:g.69768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*834-30del	ENSP00000515816.1:n.*834-30del
ENST00000315285.9:c.1174-30del MANE Select	ENSP00000320885.3:n.1174-30del
ENST00000621856.2:c.1171-30del	ENSP00000482496.2:n.1171-30del
ENST00000642281.1:c.983-8185del
ENST00000642455.1:c.1075-30del	ENSP00000493827.1:n.1075-30del
ENST00000642751.1:c.948-30del
ENST00000642999.1:c.916-30del	ENSP00000496589.1:n.916-30del
ENST00000643327.1:c.333-30del
ENST00000643334.1:c.754-30del
ENST00000644408.1:c.1050-30del
ENST00000644954.1:c.820-30del	ENSP00000494312.1:n.820-30del
ENST00000645159.1:n.1881del
ENST00000645550.1:n.387-30del
ENST00000645671.1:c.624-30del
ENST00000645730.1:c.521-30del
ENST00000646082.1:c.820-30del
ENST00000646571.1:c.1078-30del	ENSP00000495015.1:n.1078-30del
ENST00000647007.1:n.866-30del
ENST00000647133.1:c.674-30del
ENST00000315285.7:c.1174-30del	ENSP00000320885.3:n.1174-30del
ENST00000345662.5:c.1078-30del	ENSP00000340817.1:n.1078-30del
ENST00000615843.4:c.1174-30del	ENSP00000480893.1:n.1174-30del
ENST00000621856.1:c.916-30del	ENSP00000482496.1:n.916-30del
NM_014946.3:c.1174-30del , LRG_714t1:c.1174-30del	NP_055761.2:n.1174-30del
NM_199436.1:c.1078-30del	NP_955468.1:n.1078-30del
XM_005264516.3:c.1171-30del	XP_005264573.1:n.1171-30del
XM_011533067.1:c.1174-30del	XP_011531369.1:n.1174-30del
NM_001363823.1:c.1171-30del	NP_001350752.1:n.1171-30del
NM_001363875.1:c.1075-30del	NP_001350804.1:n.1075-30del
XM_005264516.5:c.1171-30del	XP_005264573.1:n.1171-30del
XM_011533067.2:c.1174-30del	XP_011531369.1:n.1174-30del
XM_017004778.2:c.1078-30del	XP_016860267.1:n.1078-30del
NM_001363823.2:c.1171-30del	NP_001350752.1:n.1171-30del
NM_001363875.2:c.1075-30del	NP_001350804.1:n.1075-30del
NM_001377959.1:c.1078-30del	NP_001364888.1:n.1078-30del
NM_014946.4:c.1174-30del MANE Select	NP_055761.2:n.1174-30del
NM_199436.2:c.1078-30del	NP_955468.1:n.1078-30del