Canonical Allele Identifier: CA2586964665

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126986dup , CM000664.2:g.32126986dup	GRCh38
NC_000002.11:g.32352055dup , CM000664.1:g.32352055dup	GRCh37
NC_000002.10:g.32205559dup	NCBI36
NG_008730.1:g.68376dup , LRG_714:g.68376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*797dup	ENSP00000515816.1:n.*797dup
ENST00000315285.9:c.1137dup MANE Select	ENSP00000320885.3:p.Leu380ThrfsTer14
ENST00000621856.2:c.1134dup	ENSP00000482496.2:p.Leu379ThrfsTer14
ENST00000642281.1:c.983-9577dup
ENST00000642455.1:c.1038dup	ENSP00000493827.1:p.Leu347ThrfsTer14
ENST00000642751.1:c.911dup
ENST00000642999.1:c.879dup	ENSP00000496589.1:p.Leu294ThrfsTer14
ENST00000643327.1:c.296dup
ENST00000643334.1:c.717dup
ENST00000644408.1:c.1013dup
ENST00000644954.1:c.783dup	ENSP00000494312.1:p.Leu262ThrfsTer14
ENST00000645159.1:n.489dup
ENST00000645550.1:n.350dup
ENST00000645671.1:c.587dup
ENST00000645730.1:c.484dup
ENST00000646082.1:c.783dup
ENST00000646571.1:c.1041dup	ENSP00000495015.1:p.Leu348ThrfsTer14
ENST00000647007.1:n.829dup
ENST00000647133.1:c.674-1422dup
ENST00000315285.7:c.1137dup	ENSP00000320885.3:p.Leu380ThrfsTer14
ENST00000345662.5:c.1041dup	ENSP00000340817.1:p.Leu348ThrfsTer14
ENST00000615843.4:c.1137dup	ENSP00000480893.1:p.Leu380ThrfsTer14
ENST00000621856.1:c.879dup	ENSP00000482496.1:p.Leu294ThrfsTer14
NM_014946.3:c.1137dup , LRG_714t1:c.1137dup	NP_055761.2:p.Leu380ThrfsTer14
NM_199436.1:c.1041dup	NP_955468.1:p.Leu348ThrfsTer14
XM_005264516.3:c.1134dup	XP_005264573.1:p.Leu379ThrfsTer14
XM_011533067.1:c.1137dup	XP_011531369.1:p.Leu380ThrfsTer14
NM_001363823.1:c.1134dup	NP_001350752.1:p.Leu379ThrfsTer14
NM_001363875.1:c.1038dup	NP_001350804.1:p.Leu347ThrfsTer14
XM_005264516.5:c.1134dup	XP_005264573.1:p.Leu379ThrfsTer14
XM_011533067.2:c.1137dup	XP_011531369.1:p.Leu380ThrfsTer14
XM_017004778.2:c.1041dup	XP_016860267.1:p.Leu348ThrfsTer14
NM_001363823.2:c.1134dup	NP_001350752.1:p.Leu379ThrfsTer14
NM_001363875.2:c.1038dup	NP_001350804.1:p.Leu347ThrfsTer14
NM_001377959.1:c.1041dup	NP_001364888.1:p.Leu348ThrfsTer14
NM_014946.4:c.1137dup MANE Select	NP_055761.2:p.Leu380ThrfsTer14
NM_199436.2:c.1041dup	NP_955468.1:p.Leu348ThrfsTer14