Canonical Allele Identifier: CA767792290

Gene: SPAST

Linked Data

• dbSNP Id: rs1288479438
• gnomAD v3: 2-32136420-A-ACT
• gnomAD v4: 2-32136420-A-ACT
• MyVariant Identifiers: chr2:g.32361489_32361490insCT (hg19) ; chr2:g.32136420_32136421insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136424_32136425dup , CM000664.2:g.32136424_32136425dup	GRCh38
NC_000002.11:g.32361493_32361494dup , CM000664.1:g.32361493_32361494dup	GRCh37
NC_000002.10:g.32214997_32214998dup	NCBI36
NG_008730.1:g.77814_77815dup , LRG_714:g.77814_77815dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*906-139_*906-138dup	ENSP00000515816.1:n.*906-139_*906-138dup
ENST00000315285.9:c.1246-139_1246-138dup MANE Select	ENSP00000320885.3:n.1246-139_1246-138dup
ENST00000621856.2:c.1243-139_1243-138dup	ENSP00000482496.2:n.1243-139_1243-138dup
ENST00000642281.1:c.983-139_983-138dup
ENST00000642455.1:c.1147-139_1147-138dup	ENSP00000493827.1:n.1147-139_1147-138dup
ENST00000642751.1:c.1020-139_1020-138dup
ENST00000642999.1:c.988-139_988-138dup	ENSP00000496589.1:n.988-139_988-138dup
ENST00000643327.1:c.405-139_405-138dup
ENST00000643334.1:c.826-139_826-138dup
ENST00000644408.1:c.1122-139_1122-138dup
ENST00000644954.1:c.892-139_892-138dup	ENSP00000494312.1:n.892-139_892-138dup
ENST00000645159.1:n.1983-139_1983-138dup
ENST00000645671.1:c.696-139_696-138dup
ENST00000645730.1:c.593-685_593-684dup
ENST00000646082.1:c.892-139_892-138dup
ENST00000646571.1:c.1150-139_1150-138dup	ENSP00000495015.1:n.1150-139_1150-138dup
ENST00000647007.1:n.938-139_938-138dup
ENST00000647133.1:c.746-139_746-138dup
ENST00000315285.7:c.1246-139_1246-138dup	ENSP00000320885.3:n.1246-139_1246-138dup
ENST00000345662.5:c.1150-139_1150-138dup	ENSP00000340817.1:n.1150-139_1150-138dup
ENST00000615843.4:c.1246-139_1246-138dup	ENSP00000480893.1:n.1246-139_1246-138dup
ENST00000621856.1:c.988-139_988-138dup	ENSP00000482496.1:n.988-139_988-138dup
NM_014946.3:c.1246-139_1246-138dup , LRG_714t1:c.1246-139_1246-138dup	NP_055761.2:n.1246-139_1246-138dup
NM_199436.1:c.1150-139_1150-138dup	NP_955468.1:n.1150-139_1150-138dup
XM_005264516.3:c.1243-139_1243-138dup	XP_005264573.1:n.1243-139_1243-138dup
XM_011533067.1:c.1246-139_1246-138dup	XP_011531369.1:n.1246-139_1246-138dup
NM_001363823.1:c.1243-139_1243-138dup	NP_001350752.1:n.1243-139_1243-138dup
NM_001363875.1:c.1147-139_1147-138dup	NP_001350804.1:n.1147-139_1147-138dup
XM_005264516.5:c.1243-139_1243-138dup	XP_005264573.1:n.1243-139_1243-138dup
XM_011533067.2:c.1246-139_1246-138dup	XP_011531369.1:n.1246-139_1246-138dup
XM_017004778.2:c.1150-139_1150-138dup	XP_016860267.1:n.1150-139_1150-138dup
NM_001363823.2:c.1243-139_1243-138dup	NP_001350752.1:n.1243-139_1243-138dup
NM_001363875.2:c.1147-139_1147-138dup	NP_001350804.1:n.1147-139_1147-138dup
NM_001377959.1:c.1150-139_1150-138dup	NP_001364888.1:n.1150-139_1150-138dup
NM_014946.4:c.1246-139_1246-138dup MANE Select	NP_055761.2:n.1246-139_1246-138dup
NM_199436.2:c.1150-139_1150-138dup	NP_955468.1:n.1150-139_1150-138dup