Canonical Allele Identifier: CA916504726

Gene: SPAST

Linked Data

• dbSNP Id: rs1573155795

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136616del , CM000664.2:g.32136616del	GRCh38
NC_000002.11:g.32361685del , CM000664.1:g.32361685del	GRCh37
NC_000002.10:g.32215189del	NCBI36
NG_008730.1:g.78006del , LRG_714:g.78006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*959del	ENSP00000515816.1:n.*959del
ENST00000315285.9:c.1299del MANE Select	ENSP00000320885.3:p.Gln434AsnfsTer4
ENST00000621856.2:c.1296del	ENSP00000482496.2:p.Gln433AsnfsTer4
ENST00000642281.1:c.1036del
ENST00000642455.1:c.1200del	ENSP00000493827.1:p.Gln401AsnfsTer4
ENST00000642751.1:c.1073del
ENST00000642999.1:c.1041del	ENSP00000496589.1:p.Gln348AsnfsTer4
ENST00000643327.1:c.458del
ENST00000643334.1:c.879del
ENST00000644408.1:c.1175del
ENST00000644954.1:c.945del	ENSP00000494312.1:p.Gln316AsnfsTer4
ENST00000645159.1:n.2036del
ENST00000645671.1:c.749del
ENST00000645730.1:c.593-493del
ENST00000646082.1:c.945del
ENST00000646571.1:c.1203del	ENSP00000495015.1:p.Gln402AsnfsTer4
ENST00000647007.1:n.991del
ENST00000647133.1:c.799del
ENST00000315285.7:c.1299del	ENSP00000320885.3:p.Gln434AsnfsTer4
ENST00000345662.5:c.1203del	ENSP00000340817.1:p.Gln402AsnfsTer4
ENST00000615843.4:c.1299del	ENSP00000480893.1:p.Gln434AsnfsTer4
ENST00000621856.1:c.1041del	ENSP00000482496.1:p.Gln348AsnfsTer4
NM_014946.3:c.1299del , LRG_714t1:c.1299del	NP_055761.2:p.Gln434AsnfsTer4
NM_199436.1:c.1203del	NP_955468.1:p.Gln402AsnfsTer4
XM_005264516.3:c.1296del	XP_005264573.1:p.Gln433AsnfsTer4
XM_011533067.1:c.1299del	XP_011531369.1:p.Gln434AsnfsTer4
NM_001363823.1:c.1296del	NP_001350752.1:p.Gln433AsnfsTer4
NM_001363875.1:c.1200del	NP_001350804.1:p.Gln401AsnfsTer4
XM_005264516.5:c.1296del	XP_005264573.1:p.Gln433AsnfsTer4
XM_011533067.2:c.1299del	XP_011531369.1:p.Gln434AsnfsTer4
XM_017004778.2:c.1203del	XP_016860267.1:p.Gln402AsnfsTer4
NM_001363823.2:c.1296del	NP_001350752.1:p.Gln433AsnfsTer4
NM_001363875.2:c.1200del	NP_001350804.1:p.Gln401AsnfsTer4
NM_001377959.1:c.1203del	NP_001364888.1:p.Gln402AsnfsTer4
NM_014946.4:c.1299del MANE Select	NP_055761.2:p.Gln434AsnfsTer4
NM_199436.2:c.1203del	NP_955468.1:p.Gln402AsnfsTer4