Canonical Allele Identifier: CA2658521881

Gene: SPAST

Linked Data

• gnomAD v4: 2-32089522-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32089523del , CM000664.2:g.32089523del	GRCh38
NC_000002.11:g.32314592del , CM000664.1:g.32314592del	GRCh37
NC_000002.10:g.32168096del	NCBI36
NG_008730.1:g.30913del , LRG_714:g.30913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*164del	ENSP00000515816.1:n.*164del
ENST00000315285.9:c.504del MANE Select	ENSP00000320885.3:p.Glu169AsnfsTer13
ENST00000621856.2:c.501del	ENSP00000482496.2:p.Glu168AsnfsTer13
ENST00000642281.1:c.388del
ENST00000642455.1:c.501del	ENSP00000493827.1:p.Glu168AsnfsTer13
ENST00000642751.1:c.374del
ENST00000642999.1:c.246del	ENSP00000496589.1:p.Glu83AsnfsTer13
ENST00000643334.1:c.89del
ENST00000644408.1:c.380del
ENST00000644954.1:c.246del	ENSP00000494312.1:p.Glu83AsnfsTer13
ENST00000645400.1:c.460del	ENSP00000496306.1:n.460del
ENST00000645671.1:c.37-9273del
ENST00000646082.1:c.338del
ENST00000646571.1:c.504del	ENSP00000495015.1:p.Glu169AsnfsTer13
ENST00000647007.1:n.201del
ENST00000647133.1:c.79del
ENST00000315285.7:c.504del	ENSP00000320885.3:p.Glu169AsnfsTer13
ENST00000345662.5:c.504del	ENSP00000340817.1:p.Glu169AsnfsTer13
ENST00000615843.4:c.504del	ENSP00000480893.1:p.Glu169AsnfsTer13
ENST00000621856.1:c.246del	ENSP00000482496.1:p.Glu83AsnfsTer13
NM_014946.3:c.504del , LRG_714t1:c.504del	NP_055761.2:p.Glu169AsnfsTer13
NM_199436.1:c.504del	NP_955468.1:p.Glu169AsnfsTer13
XM_005264516.3:c.501del	XP_005264573.1:p.Glu168AsnfsTer13
XM_011533067.1:c.504del	XP_011531369.1:p.Glu169AsnfsTer13
NM_001363823.1:c.501del	NP_001350752.1:p.Glu168AsnfsTer13
NM_001363875.1:c.501del	NP_001350804.1:p.Glu168AsnfsTer13
XM_005264516.5:c.501del	XP_005264573.1:p.Glu168AsnfsTer13
XM_011533067.2:c.504del	XP_011531369.1:p.Glu169AsnfsTer13
XM_017004778.2:c.504del	XP_016860267.1:p.Glu169AsnfsTer13
NM_001363823.2:c.501del	NP_001350752.1:p.Glu168AsnfsTer13
NM_001363875.2:c.501del	NP_001350804.1:p.Glu168AsnfsTer13
NM_001377959.1:c.504del	NP_001364888.1:p.Glu169AsnfsTer13
NM_014946.4:c.504del MANE Select	NP_055761.2:p.Glu169AsnfsTer13
NM_199436.2:c.504del	NP_955468.1:p.Glu169AsnfsTer13