Canonical Allele Identifier: CA2697547980

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2761415
• ClinVar RCV Id: RCV003524776

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064242_32064243dup , CM000664.2:g.32064242_32064243dup	GRCh38
NC_000002.11:g.32289311_32289312dup , CM000664.1:g.32289311_32289312dup	GRCh37
NC_000002.10:g.32142815_32142816dup	NCBI36
NG_008730.1:g.5632_5633dup , LRG_714:g.5632_5633dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.411_412dup	ENSP00000515816.1:p.Lys138ArgfsTer?
ENST00000315285.9:c.411_412dup MANE Select	ENSP00000320885.3:p.Lys138ArgfsTer24
ENST00000621856.2:c.411_412dup	ENSP00000482496.2:p.Lys138ArgfsTer23
ENST00000642281.1:c.295_296dup
ENST00000642455.1:c.411_412dup	ENSP00000493827.1:p.Lys138ArgfsTer23
ENST00000642751.1:c.281_282dup
ENST00000642999.1:c.153_154dup	ENSP00000496589.1:p.Lys52ArgfsTer24
ENST00000644408.1:c.287_288dup
ENST00000644954.1:c.153_154dup	ENSP00000494312.1:p.Lys52ArgfsTer24
ENST00000645400.1:c.252_253dup	ENSP00000496306.1:p.Lys85ArgfsTer3
ENST00000645671.1:c.32_33dup
ENST00000646082.1:c.245_246dup
ENST00000646571.1:c.411_412dup	ENSP00000495015.1:p.Lys138ArgfsTer24
ENST00000315285.7:c.411_412dup	ENSP00000320885.3:p.Lys138ArgfsTer24
ENST00000345662.5:c.411_412dup	ENSP00000340817.1:p.Lys138ArgfsTer24
ENST00000615843.4:c.411_412dup	ENSP00000480893.1:p.Lys138ArgfsTer24
ENST00000621856.1:c.153_154dup	ENSP00000482496.1:p.Lys52ArgfsTer24
NM_014946.3:c.411_412dup , LRG_714t1:c.411_412dup	NP_055761.2:p.Lys138ArgfsTer24
NM_199436.1:c.411_412dup	NP_955468.1:p.Lys138ArgfsTer24
XM_005264516.3:c.411_412dup	XP_005264573.1:p.Lys138ArgfsTer23
XM_011533067.1:c.411_412dup	XP_011531369.1:p.Lys138ArgfsTer24
NM_001363823.1:c.411_412dup	NP_001350752.1:p.Lys138ArgfsTer23
NM_001363875.1:c.411_412dup	NP_001350804.1:p.Lys138ArgfsTer23
XM_005264516.5:c.411_412dup	XP_005264573.1:p.Lys138ArgfsTer23
XM_011533067.2:c.411_412dup	XP_011531369.1:p.Lys138ArgfsTer24
XM_017004778.2:c.411_412dup	XP_016860267.1:p.Lys138ArgfsTer24
NM_001363823.2:c.411_412dup	NP_001350752.1:p.Lys138ArgfsTer23
NM_001363875.2:c.411_412dup	NP_001350804.1:p.Lys138ArgfsTer23
NM_001377959.1:c.411_412dup	NP_001364888.1:p.Lys138ArgfsTer24
NM_014946.4:c.411_412dup MANE Select	NP_055761.2:p.Lys138ArgfsTer24
NM_199436.2:c.411_412dup	NP_955468.1:p.Lys138ArgfsTer24