Canonical Allele Identifier: CA531500737

Gene: SPAST

Linked Data

• dbSNP Id: rs1224426961
• gnomAD v2: 2-32353548-C-CGTGA
• gnomAD v3: 2-32128479-C-CGTGA
• gnomAD v4: 2-32128479-C-CGTGA
• MyVariant Identifiers: chr2:g.32353548_32353549insGTGA (hg19) ; chr2:g.32128479_32128480insGTGA (hg38)
• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128483_32128486dup , CM000664.2:g.32128483_32128486dup	GRCh38
NC_000002.11:g.32353552_32353555dup , CM000664.1:g.32353552_32353555dup	GRCh37
NC_000002.10:g.32207056_32207059dup	NCBI36
NG_008730.1:g.69873_69876dup , LRG_714:g.69873_69876dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+4_*905+7dup	ENSP00000515816.1:n.*905+4_*905+7dup
ENST00000315285.9:c.1245+4_1245+7dup MANE Select	ENSP00000320885.3:n.1245+4_1245+7dup
ENST00000621856.2:c.1242+4_1242+7dup	ENSP00000482496.2:n.1242+4_1242+7dup
ENST00000642281.1:c.983-8080_983-8077dup
ENST00000642455.1:c.1146+4_1146+7dup	ENSP00000493827.1:n.1146+4_1146+7dup
ENST00000642751.1:c.1019+4_1019+7dup
ENST00000642999.1:c.987+4_987+7dup	ENSP00000496589.1:n.987+4_987+7dup
ENST00000643327.1:c.404+4_404+7dup
ENST00000643334.1:c.825+4_825+7dup
ENST00000644408.1:c.1121+4_1121+7dup
ENST00000644954.1:c.891+4_891+7dup	ENSP00000494312.1:n.891+4_891+7dup
ENST00000645159.1:n.1982+4_1982+7dup
ENST00000645550.1:n.462_465dup
ENST00000645671.1:c.695+4_695+7dup
ENST00000645730.1:c.592+4_592+7dup
ENST00000646082.1:c.891+4_891+7dup
ENST00000646571.1:c.1149+4_1149+7dup	ENSP00000495015.1:n.1149+4_1149+7dup
ENST00000647007.1:n.937+4_937+7dup
ENST00000647133.1:c.745+4_745+7dup
ENST00000315285.7:c.1245+4_1245+7dup	ENSP00000320885.3:n.1245+4_1245+7dup
ENST00000345662.5:c.1149+4_1149+7dup	ENSP00000340817.1:n.1149+4_1149+7dup
ENST00000615843.4:c.1245+4_1245+7dup	ENSP00000480893.1:n.1245+4_1245+7dup
ENST00000621856.1:c.987+4_987+7dup	ENSP00000482496.1:n.987+4_987+7dup
NM_014946.3:c.1245+4_1245+7dup , LRG_714t1:c.1245+4_1245+7dup	NP_055761.2:n.1245+4_1245+7dup
NM_199436.1:c.1149+4_1149+7dup	NP_955468.1:n.1149+4_1149+7dup
XM_005264516.3:c.1242+4_1242+7dup	XP_005264573.1:n.1242+4_1242+7dup
XM_011533067.1:c.1245+4_1245+7dup	XP_011531369.1:n.1245+4_1245+7dup
NM_001363823.1:c.1242+4_1242+7dup	NP_001350752.1:n.1242+4_1242+7dup
NM_001363875.1:c.1146+4_1146+7dup	NP_001350804.1:n.1146+4_1146+7dup
XM_005264516.5:c.1242+4_1242+7dup	XP_005264573.1:n.1242+4_1242+7dup
XM_011533067.2:c.1245+4_1245+7dup	XP_011531369.1:n.1245+4_1245+7dup
XM_017004778.2:c.1149+4_1149+7dup	XP_016860267.1:n.1149+4_1149+7dup
NM_001363823.2:c.1242+4_1242+7dup	NP_001350752.1:n.1242+4_1242+7dup
NM_001363875.2:c.1146+4_1146+7dup	NP_001350804.1:n.1146+4_1146+7dup
NM_001377959.1:c.1149+4_1149+7dup	NP_001364888.1:n.1149+4_1149+7dup
NM_014946.4:c.1245+4_1245+7dup MANE Select	NP_055761.2:n.1245+4_1245+7dup
NM_199436.2:c.1149+4_1149+7dup	NP_955468.1:n.1149+4_1149+7dup