Canonical Allele Identifier: CA1242501719

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136945_32136946delinsGA , CM000664.2:g.32136945_32136946delinsGA	GRCh38
NC_000002.11:g.32362014_32362015delinsGA , CM000664.1:g.32362014_32362015delinsGA	GRCh37
NC_000002.10:g.32215518_32215519delinsGA	NCBI36
NG_008730.1:g.78335_78336delinsGA , LRG_714:g.78335_78336delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1050_*1051delinsGA	ENSP00000515816.1:n.*1050_*1051delinsGA
ENST00000315285.9:c.1390_1391delinsGA MANE Select	ENSP00000320885.3:p.Glu464=
ENST00000621856.2:c.1387_1388delinsGA	ENSP00000482496.2:p.Glu463=
ENST00000642281.1:c.1127_1128delinsGA
ENST00000642455.1:c.1291_1292delinsGA	ENSP00000493827.1:p.Glu431=
ENST00000642751.1:c.1164_1165delinsGA
ENST00000642999.1:c.1132_1133delinsGA	ENSP00000496589.1:p.Glu378=
ENST00000643327.1:c.481-164_481-163delinsGA
ENST00000643334.1:c.970_971delinsGA
ENST00000644408.1:c.1266_1267delinsGA
ENST00000644954.1:c.1036_1037delinsGA	ENSP00000494312.1:p.Glu346=
ENST00000645159.1:n.2127_2128delinsGA
ENST00000645671.1:c.840_841delinsGA
ENST00000645730.1:c.593-164_593-163delinsGA
ENST00000646082.1:c.1036_1037delinsGA
ENST00000646571.1:c.1294_1295delinsGA	ENSP00000495015.1:p.Glu432=
ENST00000647007.1:n.1082_1083delinsGA
ENST00000647133.1:c.890_891delinsGA
ENST00000315285.7:c.1390_1391delinsGA	ENSP00000320885.3:p.Glu464=
ENST00000345662.5:c.1294_1295delinsGA	ENSP00000340817.1:p.Glu432=
ENST00000615843.4:c.1390_1391delinsGA	ENSP00000480893.1:p.Glu464=
ENST00000621856.1:c.1132_1133delinsGA	ENSP00000482496.1:p.Glu378=
NM_014946.3:c.1390_1391delinsGA , LRG_714t1:c.1390_1391delinsGA	NP_055761.2:p.Glu464=
NM_199436.1:c.1294_1295delinsGA	NP_955468.1:p.Glu432=
XM_005264516.3:c.1387_1388delinsGA	XP_005264573.1:p.Glu463=
XM_011533067.1:c.1390_1391delinsGA	XP_011531369.1:p.Glu464=
NM_001363823.1:c.1387_1388delinsGA	NP_001350752.1:p.Glu463=
NM_001363875.1:c.1291_1292delinsGA	NP_001350804.1:p.Glu431=
XM_005264516.5:c.1387_1388delinsGA	XP_005264573.1:p.Glu463=
XM_011533067.2:c.1390_1391delinsGA	XP_011531369.1:p.Glu464=
XM_017004778.2:c.1294_1295delinsGA	XP_016860267.1:p.Glu432=
NM_001363823.2:c.1387_1388delinsGA	NP_001350752.1:p.Glu463=
NM_001363875.2:c.1291_1292delinsGA	NP_001350804.1:p.Glu431=
NM_001377959.1:c.1294_1295delinsGA	NP_001364888.1:p.Glu432=
NM_014946.4:c.1390_1391delinsGA MANE Select	NP_055761.2:p.Glu464=
NM_199436.2:c.1294_1295delinsGA	NP_955468.1:p.Glu432=