Canonical Allele Identifier: CA1242501080

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136567_32136570delinsGAGA , CM000664.2:g.32136567_32136570delinsGAGA	GRCh38
NC_000002.11:g.32361636_32361639delinsGAGA , CM000664.1:g.32361636_32361639delinsGAGA	GRCh37
NC_000002.10:g.32215140_32215143delinsGAGA	NCBI36
NG_008730.1:g.77957_77960delinsGAGA , LRG_714:g.77957_77960delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*910_*913delinsGAGA	ENSP00000515816.1:n.*910_*913delinsGAGA
ENST00000315285.9:c.1250_1253delinsGAGA MANE Select	ENSP00000320885.3:p.Gly417=
ENST00000621856.2:c.1247_1250delinsGAGA	ENSP00000482496.2:p.Gly416=
ENST00000642281.1:c.987_990delinsGAGA
ENST00000642455.1:c.1151_1154delinsGAGA	ENSP00000493827.1:p.Gly384=
ENST00000642751.1:c.1024_1027delinsGAGA
ENST00000642999.1:c.992_995delinsGAGA	ENSP00000496589.1:p.Gly331=
ENST00000643327.1:c.409_412delinsGAGA
ENST00000643334.1:c.830_833delinsGAGA
ENST00000644408.1:c.1126_1129delinsGAGA
ENST00000644954.1:c.896_899delinsGAGA	ENSP00000494312.1:p.Gly299=
ENST00000645159.1:n.1987_1990delinsGAGA
ENST00000645671.1:c.700_703delinsGAGA
ENST00000645730.1:c.593-542_593-539delinsGAGA
ENST00000646082.1:c.896_899delinsGAGA
ENST00000646571.1:c.1154_1157delinsGAGA	ENSP00000495015.1:p.Gly385=
ENST00000647007.1:n.942_945delinsGAGA
ENST00000647133.1:c.750_753delinsGAGA
ENST00000315285.7:c.1250_1253delinsGAGA	ENSP00000320885.3:p.Gly417=
ENST00000345662.5:c.1154_1157delinsGAGA	ENSP00000340817.1:p.Gly385=
ENST00000615843.4:c.1250_1253delinsGAGA	ENSP00000480893.1:p.Gly417=
ENST00000621856.1:c.992_995delinsGAGA	ENSP00000482496.1:p.Gly331=
NM_014946.3:c.1250_1253delinsGAGA , LRG_714t1:c.1250_1253delinsGAGA	NP_055761.2:p.Gly417=
NM_199436.1:c.1154_1157delinsGAGA	NP_955468.1:p.Gly385=
XM_005264516.3:c.1247_1250delinsGAGA	XP_005264573.1:p.Gly416=
XM_011533067.1:c.1250_1253delinsGAGA	XP_011531369.1:p.Gly417=
NM_001363823.1:c.1247_1250delinsGAGA	NP_001350752.1:p.Gly416=
NM_001363875.1:c.1151_1154delinsGAGA	NP_001350804.1:p.Gly384=
XM_005264516.5:c.1247_1250delinsGAGA	XP_005264573.1:p.Gly416=
XM_011533067.2:c.1250_1253delinsGAGA	XP_011531369.1:p.Gly417=
XM_017004778.2:c.1154_1157delinsGAGA	XP_016860267.1:p.Gly385=
NM_001363823.2:c.1247_1250delinsGAGA	NP_001350752.1:p.Gly416=
NM_001363875.2:c.1151_1154delinsGAGA	NP_001350804.1:p.Gly384=
NM_001377959.1:c.1154_1157delinsGAGA	NP_001364888.1:p.Gly385=
NM_014946.4:c.1250_1253delinsGAGA MANE Select	NP_055761.2:p.Gly417=
NM_199436.2:c.1154_1157delinsGAGA	NP_955468.1:p.Gly385=