Canonical Allele Identifier: CA2658520051

Gene: SPAST

Linked Data

• gnomAD v4: 2-32064278-CGCCGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064279_32064284del , CM000664.2:g.32064279_32064284del	GRCh38
NC_000002.11:g.32289348_32289353del , CM000664.1:g.32289348_32289353del	GRCh37
NC_000002.10:g.32142852_32142857del	NCBI36
NG_008730.1:g.5669_5674del , LRG_714:g.5669_5674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.415+33_415+38del	ENSP00000515816.1:n.415+33_415+38del
ENST00000315285.9:c.415+33_415+38del MANE Select	ENSP00000320885.3:n.415+33_415+38del
ENST00000621856.2:c.415+33_415+38del	ENSP00000482496.2:n.415+33_415+38del
ENST00000642281.1:c.299+33_299+38del
ENST00000642455.1:c.415+33_415+38del	ENSP00000493827.1:n.415+33_415+38del
ENST00000642751.1:c.285+33_285+38del
ENST00000642999.1:c.157+33_157+38del	ENSP00000496589.1:n.157+33_157+38del
ENST00000644408.1:c.291+33_291+38del
ENST00000644954.1:c.157+33_157+38del	ENSP00000494312.1:n.157+33_157+38del
ENST00000645400.1:c.256+33_256+38del	ENSP00000496306.1:n.256+33_256+38del
ENST00000645671.1:c.36+33_36+38del
ENST00000646082.1:c.249+33_249+38del
ENST00000646571.1:c.415+33_415+38del	ENSP00000495015.1:n.415+33_415+38del
ENST00000315285.7:c.415+33_415+38del	ENSP00000320885.3:n.415+33_415+38del
ENST00000345662.5:c.415+33_415+38del	ENSP00000340817.1:n.415+33_415+38del
ENST00000615843.4:c.415+33_415+38del	ENSP00000480893.1:n.415+33_415+38del
ENST00000621856.1:c.157+33_157+38del	ENSP00000482496.1:n.157+33_157+38del
NM_014946.3:c.415+33_415+38del , LRG_714t1:c.415+33_415+38del	NP_055761.2:n.415+33_415+38del
NM_199436.1:c.415+33_415+38del	NP_955468.1:n.415+33_415+38del
XM_005264516.3:c.415+33_415+38del	XP_005264573.1:n.415+33_415+38del
XM_011533067.1:c.415+33_415+38del	XP_011531369.1:n.415+33_415+38del
NM_001363823.1:c.415+33_415+38del	NP_001350752.1:n.415+33_415+38del
NM_001363875.1:c.415+33_415+38del	NP_001350804.1:n.415+33_415+38del
XM_005264516.5:c.415+33_415+38del	XP_005264573.1:n.415+33_415+38del
XM_011533067.2:c.415+33_415+38del	XP_011531369.1:n.415+33_415+38del
XM_017004778.2:c.415+33_415+38del	XP_016860267.1:n.415+33_415+38del
NM_001363823.2:c.415+33_415+38del	NP_001350752.1:n.415+33_415+38del
NM_001363875.2:c.415+33_415+38del	NP_001350804.1:n.415+33_415+38del
NM_001377959.1:c.415+33_415+38del	NP_001364888.1:n.415+33_415+38del
NM_014946.4:c.415+33_415+38del MANE Select	NP_055761.2:n.415+33_415+38del
NM_199436.2:c.415+33_415+38del	NP_955468.1:n.415+33_415+38del