Canonical Allele Identifier: CA2573134600

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1347174
• ClinVar RCV Id: RCV002033014
• dbSNP Id: rs2148685676

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064127_32064444del , CM000664.2:g.32064127_32064444del	GRCh38
NC_000002.11:g.32289196_32289513del , CM000664.1:g.32289196_32289513del	GRCh37
NC_000002.10:g.32142700_32143017del	NCBI36
NG_008730.1:g.5517_5834del , LRG_714:g.5517_5834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.296_415+198del
ENST00000315285.9:c.296_415+198del
ENST00000621856.2:c.296_415+198del
ENST00000642281.1:c.180_299+198del
ENST00000642455.1:c.296_415+198del
ENST00000642751.1:c.166_285+198del
ENST00000642999.1:c.38_157+198del
ENST00000644408.1:c.172_291+198del
ENST00000644954.1:c.38_157+198del
ENST00000645400.1:c.137_256+198del
ENST00000646082.1:c.130_249+198del
ENST00000646571.1:c.296_415+198del
ENST00000315285.7:c.296_415+198del
ENST00000345662.5:c.296_415+198del
ENST00000615843.4:c.296_415+198del
ENST00000621856.1:c.38_157+198del
NM_014946.3:c.296_415+198del , LRG_714t1:c.296_415+198del
NM_199436.1:c.296_415+198del
XM_005264516.3:c.296_415+198del
XM_011533067.1:c.296_415+198del
NM_001363823.1:c.296_415+198del
NM_001363875.1:c.296_415+198del
XM_005264516.5:c.296_415+198del
XM_011533067.2:c.296_415+198del
XM_017004778.2:c.296_415+198del
NM_001363823.2:c.296_415+198del
NM_001363875.2:c.296_415+198del
NM_001377959.1:c.296_415+198del
NM_014946.4:c.296_415+198del
NM_199436.2:c.296_415+198del