Canonical Allele Identifier: CA2658519893

Gene: SPAST

Linked Data

• gnomAD v4: 2-32063884-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063887del , CM000664.2:g.32063887del	GRCh38
NC_000002.11:g.32288956del , CM000664.1:g.32288956del	GRCh37
NC_000002.10:g.32142460del	NCBI36
NG_008730.1:g.5277del , LRG_714:g.5277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.56del	ENSP00000515816.1:p.Pro19ArgfsTer?
ENST00000315285.9:c.56del MANE Select	ENSP00000320885.3:p.Pro19ArgfsTer?
ENST00000621856.2:c.56del	ENSP00000482496.2:p.Pro19ArgfsTer?
ENST00000642455.1:c.56del	ENSP00000493827.1:p.Pro19ArgfsTer?
ENST00000646571.1:c.56del	ENSP00000495015.1:p.Pro19ArgfsTer?
ENST00000315285.7:c.56del	ENSP00000320885.3:p.Pro19ArgfsTer?
ENST00000345662.5:c.56del	ENSP00000340817.1:p.Pro19ArgfsTer?
ENST00000615843.4:c.56del	ENSP00000480893.1:p.Pro19ArgfsTer?
NM_014946.3:c.56del , LRG_714t1:c.56del	NP_055761.2:p.Pro19ArgfsTer?
NM_199436.1:c.56del	NP_955468.1:p.Pro19ArgfsTer?
XM_005264516.3:c.56del	XP_005264573.1:p.Pro19ArgfsTer?
XM_011533067.1:c.56del	XP_011531369.1:p.Pro19ArgfsTer?
NM_001363823.1:c.56del	NP_001350752.1:p.Pro19ArgfsTer?
NM_001363875.1:c.56del	NP_001350804.1:p.Pro19ArgfsTer?
XM_005264516.5:c.56del	XP_005264573.1:p.Pro19ArgfsTer?
XM_011533067.2:c.56del	XP_011531369.1:p.Pro19ArgfsTer?
XM_017004778.2:c.56del	XP_016860267.1:p.Pro19ArgfsTer?
NM_001363823.2:c.56del	NP_001350752.1:p.Pro19ArgfsTer?
NM_001363875.2:c.56del	NP_001350804.1:p.Pro19ArgfsTer?
NM_001377959.1:c.56del	NP_001364888.1:p.Pro19ArgfsTer?
NM_014946.4:c.56del MANE Select	NP_055761.2:p.Pro19ArgfsTer?
NM_199436.2:c.56del	NP_955468.1:p.Pro19ArgfsTer?