Canonical Allele Identifier: CA767787732

Gene: SPAST

Linked Data

• dbSNP Id: rs1292288580
• gnomAD v3: 2-32128339-GT-G
• gnomAD v4: 2-32128339-GT-G
• MyVariant Identifiers: chr2:g.32353409del (hg19) ; chr2:g.32128340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128340del , CM000664.2:g.32128340del	GRCh38
NC_000002.11:g.32353409del , CM000664.1:g.32353409del	GRCh37
NC_000002.10:g.32206913del	NCBI36
NG_008730.1:g.69730del , LRG_714:g.69730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*834-68del	ENSP00000515816.1:n.*834-68del
ENST00000315285.9:c.1174-68del MANE Select	ENSP00000320885.3:n.1174-68del
ENST00000621856.2:c.1171-68del	ENSP00000482496.2:n.1171-68del
ENST00000642281.1:c.983-8223del
ENST00000642455.1:c.1075-68del	ENSP00000493827.1:n.1075-68del
ENST00000642751.1:c.948-68del
ENST00000642999.1:c.916-68del	ENSP00000496589.1:n.916-68del
ENST00000643327.1:c.333-68del
ENST00000643334.1:c.754-68del
ENST00000644408.1:c.1050-68del
ENST00000644954.1:c.820-68del	ENSP00000494312.1:n.820-68del
ENST00000645159.1:n.1843del
ENST00000645550.1:n.387-68del
ENST00000645671.1:c.624-68del
ENST00000645730.1:c.521-68del
ENST00000646082.1:c.820-68del
ENST00000646571.1:c.1078-68del	ENSP00000495015.1:n.1078-68del
ENST00000647007.1:n.866-68del
ENST00000647133.1:c.674-68del
ENST00000315285.7:c.1174-68del	ENSP00000320885.3:n.1174-68del
ENST00000345662.5:c.1078-68del	ENSP00000340817.1:n.1078-68del
ENST00000615843.4:c.1174-68del	ENSP00000480893.1:n.1174-68del
ENST00000621856.1:c.916-68del	ENSP00000482496.1:n.916-68del
NM_014946.3:c.1174-68del , LRG_714t1:c.1174-68del	NP_055761.2:n.1174-68del
NM_199436.1:c.1078-68del	NP_955468.1:n.1078-68del
XM_005264516.3:c.1171-68del	XP_005264573.1:n.1171-68del
XM_011533067.1:c.1174-68del	XP_011531369.1:n.1174-68del
NM_001363823.1:c.1171-68del	NP_001350752.1:n.1171-68del
NM_001363875.1:c.1075-68del	NP_001350804.1:n.1075-68del
XM_005264516.5:c.1171-68del	XP_005264573.1:n.1171-68del
XM_011533067.2:c.1174-68del	XP_011531369.1:n.1174-68del
XM_017004778.2:c.1078-68del	XP_016860267.1:n.1078-68del
NM_001363823.2:c.1171-68del	NP_001350752.1:n.1171-68del
NM_001363875.2:c.1075-68del	NP_001350804.1:n.1075-68del
NM_001377959.1:c.1078-68del	NP_001364888.1:n.1078-68del
NM_014946.4:c.1174-68del MANE Select	NP_055761.2:n.1174-68del
NM_199436.2:c.1078-68del	NP_955468.1:n.1078-68del