Canonical Allele Identifier: CA2658520027

Gene: SPAST

Linked Data

• gnomAD v4: 2-32064274-GCGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064275_32064278del , CM000664.2:g.32064275_32064278del	GRCh38
NC_000002.11:g.32289344_32289347del , CM000664.1:g.32289344_32289347del	GRCh37
NC_000002.10:g.32142848_32142851del	NCBI36
NG_008730.1:g.5665_5668del , LRG_714:g.5665_5668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.415+29_415+32del	ENSP00000515816.1:n.415+29_415+32del
ENST00000315285.9:c.415+29_415+32del MANE Select	ENSP00000320885.3:n.415+29_415+32del
ENST00000621856.2:c.415+29_415+32del	ENSP00000482496.2:n.415+29_415+32del
ENST00000642281.1:c.299+29_299+32del
ENST00000642455.1:c.415+29_415+32del	ENSP00000493827.1:n.415+29_415+32del
ENST00000642751.1:c.285+29_285+32del
ENST00000642999.1:c.157+29_157+32del	ENSP00000496589.1:n.157+29_157+32del
ENST00000644408.1:c.291+29_291+32del
ENST00000644954.1:c.157+29_157+32del	ENSP00000494312.1:n.157+29_157+32del
ENST00000645400.1:c.256+29_256+32del	ENSP00000496306.1:n.256+29_256+32del
ENST00000645671.1:c.36+29_36+32del
ENST00000646082.1:c.249+29_249+32del
ENST00000646571.1:c.415+29_415+32del	ENSP00000495015.1:n.415+29_415+32del
ENST00000315285.7:c.415+29_415+32del	ENSP00000320885.3:n.415+29_415+32del
ENST00000345662.5:c.415+29_415+32del	ENSP00000340817.1:n.415+29_415+32del
ENST00000615843.4:c.415+29_415+32del	ENSP00000480893.1:n.415+29_415+32del
ENST00000621856.1:c.157+29_157+32del	ENSP00000482496.1:n.157+29_157+32del
NM_014946.3:c.415+29_415+32del , LRG_714t1:c.415+29_415+32del	NP_055761.2:n.415+29_415+32del
NM_199436.1:c.415+29_415+32del	NP_955468.1:n.415+29_415+32del
XM_005264516.3:c.415+29_415+32del	XP_005264573.1:n.415+29_415+32del
XM_011533067.1:c.415+29_415+32del	XP_011531369.1:n.415+29_415+32del
NM_001363823.1:c.415+29_415+32del	NP_001350752.1:n.415+29_415+32del
NM_001363875.1:c.415+29_415+32del	NP_001350804.1:n.415+29_415+32del
XM_005264516.5:c.415+29_415+32del	XP_005264573.1:n.415+29_415+32del
XM_011533067.2:c.415+29_415+32del	XP_011531369.1:n.415+29_415+32del
XM_017004778.2:c.415+29_415+32del	XP_016860267.1:n.415+29_415+32del
NM_001363823.2:c.415+29_415+32del	NP_001350752.1:n.415+29_415+32del
NM_001363875.2:c.415+29_415+32del	NP_001350804.1:n.415+29_415+32del
NM_001377959.1:c.415+29_415+32del	NP_001364888.1:n.415+29_415+32del
NM_014946.4:c.415+29_415+32del MANE Select	NP_055761.2:n.415+29_415+32del
NM_199436.2:c.415+29_415+32del	NP_955468.1:n.415+29_415+32del