Canonical Allele Identifier: CA2586964656

Gene: SPAST

Linked Data

• ClinVar Variation Id: 3027453
• ClinVar RCV Id: RCV003887845

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126964del , CM000664.2:g.32126964del	GRCh38
NC_000002.11:g.32352033del , CM000664.1:g.32352033del	GRCh37
NC_000002.10:g.32205537del	NCBI36
NG_008730.1:g.68354del , LRG_714:g.68354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*775del	ENSP00000515816.1:n.*775del
ENST00000315285.9:c.1115del MANE Select	ENSP00000320885.3:p.Arg372LysfsTer24
ENST00000621856.2:c.1112del	ENSP00000482496.2:p.Arg371LysfsTer24
ENST00000642281.1:c.983-9599del
ENST00000642455.1:c.1016del	ENSP00000493827.1:p.Arg339LysfsTer24
ENST00000642751.1:c.889del
ENST00000642999.1:c.857del	ENSP00000496589.1:p.Arg286LysfsTer24
ENST00000643327.1:c.274del
ENST00000643334.1:c.695del
ENST00000644408.1:c.991del
ENST00000644954.1:c.761del	ENSP00000494312.1:p.Arg254LysfsTer24
ENST00000645159.1:n.467del
ENST00000645550.1:n.328del
ENST00000645671.1:c.565del
ENST00000645730.1:c.462del
ENST00000646082.1:c.761del
ENST00000646571.1:c.1019del	ENSP00000495015.1:p.Arg340LysfsTer24
ENST00000647007.1:n.807del
ENST00000647133.1:c.674-1444del
ENST00000315285.7:c.1115del	ENSP00000320885.3:p.Arg372LysfsTer24
ENST00000345662.5:c.1019del	ENSP00000340817.1:p.Arg340LysfsTer24
ENST00000615843.4:c.1115del	ENSP00000480893.1:p.Arg372LysfsTer24
ENST00000621856.1:c.857del	ENSP00000482496.1:p.Arg286LysfsTer24
NM_014946.3:c.1115del , LRG_714t1:c.1115del	NP_055761.2:p.Arg372LysfsTer24
NM_199436.1:c.1019del	NP_955468.1:p.Arg340LysfsTer24
XM_005264516.3:c.1112del	XP_005264573.1:p.Arg371LysfsTer24
XM_011533067.1:c.1115del	XP_011531369.1:p.Arg372LysfsTer24
NM_001363823.1:c.1112del	NP_001350752.1:p.Arg371LysfsTer24
NM_001363875.1:c.1016del	NP_001350804.1:p.Arg339LysfsTer24
XM_005264516.5:c.1112del	XP_005264573.1:p.Arg371LysfsTer24
XM_011533067.2:c.1115del	XP_011531369.1:p.Arg372LysfsTer24
XM_017004778.2:c.1019del	XP_016860267.1:p.Arg340LysfsTer24
NM_001363823.2:c.1112del	NP_001350752.1:p.Arg371LysfsTer24
NM_001363875.2:c.1016del	NP_001350804.1:p.Arg339LysfsTer24
NM_001377959.1:c.1019del	NP_001364888.1:p.Arg340LysfsTer24
NM_014946.4:c.1115del MANE Select	NP_055761.2:p.Arg372LysfsTer24
NM_199436.2:c.1019del	NP_955468.1:p.Arg340LysfsTer24