Canonical Allele Identifier: CA645524363

Gene: SPAST

Linked Data

• ClinVar Variation Id: 2103343
• ClinVar RCV Id: RCV003022102
• COSMIC: COSM6039438

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064143_32064148del , CM000664.2:g.32064143_32064148del	GRCh38
NC_000002.11:g.32289212_32289217del , CM000664.1:g.32289212_32289217del	GRCh37
NC_000002.10:g.32142716_32142721del	NCBI36
NG_008730.1:g.5533_5538del , LRG_714:g.5533_5538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.312_317del	ENSP00000515816.1:p.Pro105_Ala106del
ENST00000315285.9:c.312_317del MANE Select	ENSP00000320885.3:p.Pro105_Ala106del
ENST00000621856.2:c.312_317del	ENSP00000482496.2:p.Pro105_Ala106del
ENST00000642281.1:c.196_201del
ENST00000642455.1:c.312_317del	ENSP00000493827.1:p.Pro105_Ala106del
ENST00000642751.1:c.182_187del
ENST00000642999.1:c.54_59del	ENSP00000496589.1:p.Pro19_Ala20del
ENST00000644408.1:c.188_193del
ENST00000644954.1:c.54_59del	ENSP00000494312.1:p.Pro19_Ala20del
ENST00000645400.1:c.153_158del	ENSP00000496306.1:p.Pro52_Ala53del
ENST00000646082.1:c.146_151del
ENST00000646571.1:c.312_317del	ENSP00000495015.1:p.Pro105_Ala106del
ENST00000315285.7:c.312_317del	ENSP00000320885.3:p.Pro105_Ala106del
ENST00000345662.5:c.312_317del	ENSP00000340817.1:p.Pro105_Ala106del
ENST00000615843.4:c.312_317del	ENSP00000480893.1:p.Pro105_Ala106del
ENST00000621856.1:c.54_59del	ENSP00000482496.1:p.Pro19_Ala20del
NM_014946.3:c.312_317del , LRG_714t1:c.312_317del	NP_055761.2:p.Pro105_Ala106del
NM_199436.1:c.312_317del	NP_955468.1:p.Pro105_Ala106del
XM_005264516.3:c.312_317del	XP_005264573.1:p.Pro105_Ala106del
XM_011533067.1:c.312_317del	XP_011531369.1:p.Pro105_Ala106del
NM_001363823.1:c.312_317del	NP_001350752.1:p.Pro105_Ala106del
NM_001363875.1:c.312_317del	NP_001350804.1:p.Pro105_Ala106del
XM_005264516.5:c.312_317del	XP_005264573.1:p.Pro105_Ala106del
XM_011533067.2:c.312_317del	XP_011531369.1:p.Pro105_Ala106del
XM_017004778.2:c.312_317del	XP_016860267.1:p.Pro105_Ala106del
NM_001363823.2:c.312_317del	NP_001350752.1:p.Pro105_Ala106del
NM_001363875.2:c.312_317del	NP_001350804.1:p.Pro105_Ala106del
NM_001377959.1:c.312_317del	NP_001364888.1:p.Pro105_Ala106del
NM_014946.4:c.312_317del MANE Select	NP_055761.2:p.Pro105_Ala106del
NM_199436.2:c.312_317del	NP_955468.1:p.Pro105_Ala106del