Canonical Allele Identifier: CA1600840

Gene: SPAST

Linked Data

• ClinVar Variation Id: 1151344
• ClinVar RCV Id: RCV001492224
• dbSNP Id: rs755187805
• ExAC: 2:32353555 GCT / G
• gnomAD v2: 2-32353555-GCT-G
• gnomAD v3: 2-32128486-GCT-G
• gnomAD v4: 2-32128486-GCT-G
• MyVariant Identifiers: chr2:g.32353556_32353557del (hg19) ; chr2:g.32128488_32128489del (hg38) ; chr2:g.32128487_32128488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128489_32128490del , CM000664.2:g.32128489_32128490del	GRCh38
NC_000002.11:g.32353558_32353559del , CM000664.1:g.32353558_32353559del	GRCh37
NC_000002.10:g.32207062_32207063del	NCBI36
NG_008730.1:g.69879_69880del , LRG_714:g.69879_69880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*905+10_*905+11del	ENSP00000515816.1:n.*905+10_*905+11del
ENST00000315285.9:c.1245+10_1245+11del MANE Select	ENSP00000320885.3:n.1245+10_1245+11del
ENST00000621856.2:c.1242+10_1242+11del	ENSP00000482496.2:n.1242+10_1242+11del
ENST00000642281.1:c.983-8074_983-8073del
ENST00000642455.1:c.1146+10_1146+11del	ENSP00000493827.1:n.1146+10_1146+11del
ENST00000642751.1:c.1019+10_1019+11del
ENST00000642999.1:c.987+10_987+11del	ENSP00000496589.1:n.987+10_987+11del
ENST00000643327.1:c.404+10_404+11del
ENST00000643334.1:c.825+10_825+11del
ENST00000644408.1:c.1121+10_1121+11del
ENST00000644954.1:c.891+10_891+11del	ENSP00000494312.1:n.891+10_891+11del
ENST00000645159.1:n.1982+10_1982+11del
ENST00000645550.1:n.468_469del
ENST00000645671.1:c.695+10_695+11del
ENST00000645730.1:c.592+10_592+11del
ENST00000646082.1:c.891+10_891+11del
ENST00000646571.1:c.1149+10_1149+11del	ENSP00000495015.1:n.1149+10_1149+11del
ENST00000647007.1:n.937+10_937+11del
ENST00000647133.1:c.745+10_745+11del
ENST00000315285.7:c.1245+10_1245+11del	ENSP00000320885.3:n.1245+10_1245+11del
ENST00000345662.5:c.1149+10_1149+11del	ENSP00000340817.1:n.1149+10_1149+11del
ENST00000615843.4:c.1245+10_1245+11del	ENSP00000480893.1:n.1245+10_1245+11del
ENST00000621856.1:c.987+10_987+11del	ENSP00000482496.1:n.987+10_987+11del
NM_014946.3:c.1245+10_1245+11del , LRG_714t1:c.1245+10_1245+11del	NP_055761.2:n.1245+10_1245+11del
NM_199436.1:c.1149+10_1149+11del	NP_955468.1:n.1149+10_1149+11del
XM_005264516.3:c.1242+10_1242+11del	XP_005264573.1:n.1242+10_1242+11del
XM_011533067.1:c.1245+10_1245+11del	XP_011531369.1:n.1245+10_1245+11del
NM_001363823.1:c.1242+10_1242+11del	NP_001350752.1:n.1242+10_1242+11del
NM_001363875.1:c.1146+10_1146+11del	NP_001350804.1:n.1146+10_1146+11del
XM_005264516.5:c.1242+10_1242+11del	XP_005264573.1:n.1242+10_1242+11del
XM_011533067.2:c.1245+10_1245+11del	XP_011531369.1:n.1245+10_1245+11del
XM_017004778.2:c.1149+10_1149+11del	XP_016860267.1:n.1149+10_1149+11del
NM_001363823.2:c.1242+10_1242+11del	NP_001350752.1:n.1242+10_1242+11del
NM_001363875.2:c.1146+10_1146+11del	NP_001350804.1:n.1146+10_1146+11del
NM_001377959.1:c.1149+10_1149+11del	NP_001364888.1:n.1149+10_1149+11del
NM_014946.4:c.1245+10_1245+11del MANE Select	NP_055761.2:n.1245+10_1245+11del
NM_199436.2:c.1149+10_1149+11del	NP_955468.1:n.1149+10_1149+11del