Canonical Allele Identifier: CA2573051933

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1344040
• ClinVar RCV Id: RCV001848143
• dbSNP Id: rs1553317029

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128442_32128446del , CM000664.2:g.32128442_32128446del	GRCh38
NC_000002.11:g.32353511_32353515del , CM000664.1:g.32353511_32353515del	GRCh37
NC_000002.10:g.32207015_32207019del	NCBI36
NG_008730.1:g.69832_69836del , LRG_714:g.69832_69836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*868_*872del	ENSP00000515816.1:n.*868_*872del
ENST00000315285.9:c.1208_1212del MANE Select	ENSP00000320885.3:p.Phe403Ter
ENST00000621856.2:c.1205_1209del	ENSP00000482496.2:p.Phe402Ter
ENST00000642281.1:c.983-8121_983-8117del
ENST00000642455.1:c.1109_1113del	ENSP00000493827.1:p.Phe370Ter
ENST00000642751.1:c.982_986del
ENST00000642999.1:c.950_954del	ENSP00000496589.1:p.Phe317Ter
ENST00000643327.1:c.367_371del
ENST00000643334.1:c.788_792del
ENST00000644408.1:c.1084_1088del
ENST00000644954.1:c.854_858del	ENSP00000494312.1:p.Phe285Ter
ENST00000645159.1:n.1945_1949del
ENST00000645550.1:n.421_425del
ENST00000645671.1:c.658_662del
ENST00000645730.1:c.555_559del
ENST00000646082.1:c.854_858del
ENST00000646571.1:c.1112_1116del	ENSP00000495015.1:p.Phe371Ter
ENST00000647007.1:n.900_904del
ENST00000647133.1:c.708_712del
ENST00000315285.7:c.1208_1212del	ENSP00000320885.3:p.Phe403Ter
ENST00000345662.5:c.1112_1116del	ENSP00000340817.1:p.Phe371Ter
ENST00000615843.4:c.1208_1212del	ENSP00000480893.1:p.Phe403Ter
ENST00000621856.1:c.950_954del	ENSP00000482496.1:p.Phe317Ter
NM_014946.3:c.1208_1212del , LRG_714t1:c.1208_1212del	NP_055761.2:p.Phe403Ter
NM_199436.1:c.1112_1116del	NP_955468.1:p.Phe371Ter
XM_005264516.3:c.1205_1209del	XP_005264573.1:p.Phe402Ter
XM_011533067.1:c.1208_1212del	XP_011531369.1:p.Phe403Ter
NM_001363823.1:c.1205_1209del	NP_001350752.1:p.Phe402Ter
NM_001363875.1:c.1109_1113del	NP_001350804.1:p.Phe370Ter
XM_005264516.5:c.1205_1209del	XP_005264573.1:p.Phe402Ter
XM_011533067.2:c.1208_1212del	XP_011531369.1:p.Phe403Ter
XM_017004778.2:c.1112_1116del	XP_016860267.1:p.Phe371Ter
NM_001363823.2:c.1205_1209del	NP_001350752.1:p.Phe402Ter
NM_001363875.2:c.1109_1113del	NP_001350804.1:p.Phe370Ter
NM_001377959.1:c.1112_1116del	NP_001364888.1:p.Phe371Ter
NM_014946.4:c.1208_1212del MANE Select	NP_055761.2:p.Phe403Ter
NM_199436.2:c.1112_1116del	NP_955468.1:p.Phe371Ter