Canonical Allele Identifier: CA767788023

Gene: SPAST

Linked Data

• dbSNP Id: rs1232991686
• gnomAD v3: 2-32128608-TATG-T
• gnomAD v4: 2-32128608-TATG-T
• MyVariant Identifiers: chr2:g.32353678_32353680del (hg19) ; chr2:g.32128609_32128611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128613_32128615del , CM000664.2:g.32128613_32128615del	GRCh38
NC_000002.11:g.32353682_32353684del , CM000664.1:g.32353682_32353684del	GRCh37
NC_000002.10:g.32207186_32207188del	NCBI36
NG_008730.1:g.70003_70005del , LRG_714:g.70003_70005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*905+134_*905+136del	ENSP00000515816.1:n.*905+134_*905+136del
ENST00000315285.9:c.1245+134_1245+136del MANE Select	ENSP00000320885.3:n.1245+134_1245+136del
ENST00000621856.2:c.1242+134_1242+136del	ENSP00000482496.2:n.1242+134_1242+136del
ENST00000642281.1:c.983-7950_983-7948del
ENST00000642455.1:c.1146+134_1146+136del	ENSP00000493827.1:n.1146+134_1146+136del
ENST00000642751.1:c.1019+134_1019+136del
ENST00000642999.1:c.987+134_987+136del	ENSP00000496589.1:n.987+134_987+136del
ENST00000643327.1:c.404+134_404+136del
ENST00000643334.1:c.825+134_825+136del
ENST00000644408.1:c.1121+134_1121+136del
ENST00000644954.1:c.891+134_891+136del	ENSP00000494312.1:n.891+134_891+136del
ENST00000645159.1:n.1982+134_1982+136del
ENST00000645550.1:n.592_594del
ENST00000645671.1:c.695+134_695+136del
ENST00000645730.1:c.592+134_592+136del
ENST00000646082.1:c.891+134_891+136del
ENST00000646571.1:c.1149+134_1149+136del	ENSP00000495015.1:n.1149+134_1149+136del
ENST00000647007.1:n.937+134_937+136del
ENST00000647133.1:c.745+134_745+136del
ENST00000315285.7:c.1245+134_1245+136del	ENSP00000320885.3:n.1245+134_1245+136del
ENST00000345662.5:c.1149+134_1149+136del	ENSP00000340817.1:n.1149+134_1149+136del
ENST00000615843.4:c.1245+134_1245+136del	ENSP00000480893.1:n.1245+134_1245+136del
ENST00000621856.1:c.987+134_987+136del	ENSP00000482496.1:n.987+134_987+136del
NM_014946.3:c.1245+134_1245+136del , LRG_714t1:c.1245+134_1245+136del	NP_055761.2:n.1245+134_1245+136del
NM_199436.1:c.1149+134_1149+136del	NP_955468.1:n.1149+134_1149+136del
XM_005264516.3:c.1242+134_1242+136del	XP_005264573.1:n.1242+134_1242+136del
XM_011533067.1:c.1245+134_1245+136del	XP_011531369.1:n.1245+134_1245+136del
NM_001363823.1:c.1242+134_1242+136del	NP_001350752.1:n.1242+134_1242+136del
NM_001363875.1:c.1146+134_1146+136del	NP_001350804.1:n.1146+134_1146+136del
XM_005264516.5:c.1242+134_1242+136del	XP_005264573.1:n.1242+134_1242+136del
XM_011533067.2:c.1245+134_1245+136del	XP_011531369.1:n.1245+134_1245+136del
XM_017004778.2:c.1149+134_1149+136del	XP_016860267.1:n.1149+134_1149+136del
NM_001363823.2:c.1242+134_1242+136del	NP_001350752.1:n.1242+134_1242+136del
NM_001363875.2:c.1146+134_1146+136del	NP_001350804.1:n.1146+134_1146+136del
NM_001377959.1:c.1149+134_1149+136del	NP_001364888.1:n.1149+134_1149+136del
NM_014946.4:c.1245+134_1245+136del MANE Select	NP_055761.2:n.1245+134_1245+136del
NM_199436.2:c.1149+134_1149+136del	NP_955468.1:n.1149+134_1149+136del