Canonical Allele Identifier: CA2658519931

Gene: SPAST

Linked Data

• gnomAD v4: 2-32064258-GCTGGGGGAGGGGGCGGCGGCGCCGGGAAGAAGGCGGTGGGGTCGCCGGGGGAGGGCAACACCTGCGTCCCTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064262_32064335del , CM000664.2:g.32064262_32064335del	GRCh38
NC_000002.11:g.32289331_32289404del , CM000664.1:g.32289331_32289404del	GRCh37
NC_000002.10:g.32142835_32142908del	NCBI36
NG_008730.1:g.5652_5725del , LRG_714:g.5652_5725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.415+16_415+89del	ENSP00000515816.1:n.415+16_415+89del
ENST00000315285.9:c.415+16_415+89del MANE Select	ENSP00000320885.3:n.415+16_415+89del
ENST00000621856.2:c.415+16_415+89del	ENSP00000482496.2:n.415+16_415+89del
ENST00000642281.1:c.299+16_299+89del
ENST00000642455.1:c.415+16_415+89del	ENSP00000493827.1:n.415+16_415+89del
ENST00000642751.1:c.285+16_285+89del
ENST00000642999.1:c.157+16_157+89del	ENSP00000496589.1:n.157+16_157+89del
ENST00000644408.1:c.291+16_291+89del
ENST00000644954.1:c.157+16_157+89del	ENSP00000494312.1:n.157+16_157+89del
ENST00000645400.1:c.256+16_256+89del	ENSP00000496306.1:n.256+16_256+89del
ENST00000645671.1:c.36+16_36+89del
ENST00000646082.1:c.249+16_249+89del
ENST00000646571.1:c.415+16_415+89del	ENSP00000495015.1:n.415+16_415+89del
ENST00000315285.7:c.415+16_415+89del	ENSP00000320885.3:n.415+16_415+89del
ENST00000345662.5:c.415+16_415+89del	ENSP00000340817.1:n.415+16_415+89del
ENST00000615843.4:c.415+16_415+89del	ENSP00000480893.1:n.415+16_415+89del
ENST00000621856.1:c.157+16_157+89del	ENSP00000482496.1:n.157+16_157+89del
NM_014946.3:c.415+16_415+89del , LRG_714t1:c.415+16_415+89del	NP_055761.2:n.415+16_415+89del
NM_199436.1:c.415+16_415+89del	NP_955468.1:n.415+16_415+89del
XM_005264516.3:c.415+16_415+89del	XP_005264573.1:n.415+16_415+89del
XM_011533067.1:c.415+16_415+89del	XP_011531369.1:n.415+16_415+89del
NM_001363823.1:c.415+16_415+89del	NP_001350752.1:n.415+16_415+89del
NM_001363875.1:c.415+16_415+89del	NP_001350804.1:n.415+16_415+89del
XM_005264516.5:c.415+16_415+89del	XP_005264573.1:n.415+16_415+89del
XM_011533067.2:c.415+16_415+89del	XP_011531369.1:n.415+16_415+89del
XM_017004778.2:c.415+16_415+89del	XP_016860267.1:n.415+16_415+89del
NM_001363823.2:c.415+16_415+89del	NP_001350752.1:n.415+16_415+89del
NM_001363875.2:c.415+16_415+89del	NP_001350804.1:n.415+16_415+89del
NM_001377959.1:c.415+16_415+89del	NP_001364888.1:n.415+16_415+89del
NM_014946.4:c.415+16_415+89del MANE Select	NP_055761.2:n.415+16_415+89del
NM_199436.2:c.415+16_415+89del	NP_955468.1:n.415+16_415+89del