Canonical Allele Identifier: CA2586964671

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126989del , CM000664.2:g.32126989del	GRCh38
NC_000002.11:g.32352058del , CM000664.1:g.32352058del	GRCh37
NC_000002.10:g.32205562del	NCBI36
NG_008730.1:g.68379del , LRG_714:g.68379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*800del	ENSP00000515816.1:n.*800del
ENST00000315285.9:c.1140del MANE Select	ENSP00000320885.3:p.Phe381LeufsTer15
ENST00000621856.2:c.1137del	ENSP00000482496.2:p.Phe380LeufsTer15
ENST00000642281.1:c.983-9574del
ENST00000642455.1:c.1041del	ENSP00000493827.1:p.Phe348LeufsTer15
ENST00000642751.1:c.914del
ENST00000642999.1:c.882del	ENSP00000496589.1:p.Phe295LeufsTer15
ENST00000643327.1:c.299del
ENST00000643334.1:c.720del
ENST00000644408.1:c.1016del
ENST00000644954.1:c.786del	ENSP00000494312.1:p.Phe263LeufsTer15
ENST00000645159.1:n.492del
ENST00000645550.1:n.353del
ENST00000645671.1:c.590del
ENST00000645730.1:c.487del
ENST00000646082.1:c.786del
ENST00000646571.1:c.1044del	ENSP00000495015.1:p.Phe349LeufsTer15
ENST00000647007.1:n.832del
ENST00000647133.1:c.674-1419del
ENST00000315285.7:c.1140del	ENSP00000320885.3:p.Phe381LeufsTer15
ENST00000345662.5:c.1044del	ENSP00000340817.1:p.Phe349LeufsTer15
ENST00000615843.4:c.1140del	ENSP00000480893.1:p.Phe381LeufsTer15
ENST00000621856.1:c.882del	ENSP00000482496.1:p.Phe295LeufsTer15
NM_014946.3:c.1140del , LRG_714t1:c.1140del	NP_055761.2:p.Phe381LeufsTer15
NM_199436.1:c.1044del	NP_955468.1:p.Phe349LeufsTer15
XM_005264516.3:c.1137del	XP_005264573.1:p.Phe380LeufsTer15
XM_011533067.1:c.1140del	XP_011531369.1:p.Phe381LeufsTer15
NM_001363823.1:c.1137del	NP_001350752.1:p.Phe380LeufsTer15
NM_001363875.1:c.1041del	NP_001350804.1:p.Phe348LeufsTer15
XM_005264516.5:c.1137del	XP_005264573.1:p.Phe380LeufsTer15
XM_011533067.2:c.1140del	XP_011531369.1:p.Phe381LeufsTer15
XM_017004778.2:c.1044del	XP_016860267.1:p.Phe349LeufsTer15
NM_001363823.2:c.1137del	NP_001350752.1:p.Phe380LeufsTer15
NM_001363875.2:c.1041del	NP_001350804.1:p.Phe348LeufsTer15
NM_001377959.1:c.1044del	NP_001364888.1:p.Phe349LeufsTer15
NM_014946.4:c.1140del MANE Select	NP_055761.2:p.Phe381LeufsTer15
NM_199436.2:c.1044del	NP_955468.1:p.Phe349LeufsTer15