Canonical Allele Identifier: CA1242502070

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137143_32137144delinsTG , CM000664.2:g.32137143_32137144delinsTG	GRCh38
NC_000002.11:g.32362212_32362213delinsTG , CM000664.1:g.32362212_32362213delinsTG	GRCh37
NC_000002.10:g.32215716_32215717delinsTG	NCBI36
NG_008730.1:g.78533_78534delinsTG , LRG_714:g.78533_78534delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1108_*1109delinsTG	ENSP00000515816.1:n.*1108_*1109delinsTG
ENST00000315285.9:c.1448_1449delinsTG MANE Select	ENSP00000320885.3:p.Met483=
ENST00000621856.2:c.1445_1446delinsTG	ENSP00000482496.2:p.Met482=
ENST00000642281.1:c.1185_1186delinsTG
ENST00000642455.1:c.1349_1350delinsTG	ENSP00000493827.1:p.Met450=
ENST00000642751.1:c.1222_1223delinsTG
ENST00000642999.1:c.1190_1191delinsTG	ENSP00000496589.1:p.Met397=
ENST00000643327.1:c.515_516delinsTG
ENST00000643334.1:c.1028_1029delinsTG
ENST00000644408.1:c.1324_1325delinsTG
ENST00000644954.1:c.1094_1095delinsTG	ENSP00000494312.1:p.Met365=
ENST00000645159.1:n.2185_2186delinsTG
ENST00000645671.1:c.898_899delinsTG
ENST00000645730.1:c.627_628delinsTG
ENST00000646082.1:c.1094_1095delinsTG
ENST00000646571.1:c.1352_1353delinsTG	ENSP00000495015.1:p.Met451=
ENST00000647007.1:n.1140_1141delinsTG
ENST00000647133.1:c.948_949delinsTG
ENST00000315285.7:c.1448_1449delinsTG	ENSP00000320885.3:p.Met483=
ENST00000345662.5:c.1352_1353delinsTG	ENSP00000340817.1:p.Met451=
ENST00000615843.4:c.1448_1449delinsTG	ENSP00000480893.1:p.Met483=
ENST00000621856.1:c.1190_1191delinsTG	ENSP00000482496.1:p.Met397=
NM_014946.3:c.1448_1449delinsTG , LRG_714t1:c.1448_1449delinsTG	NP_055761.2:p.Met483=
NM_199436.1:c.1352_1353delinsTG	NP_955468.1:p.Met451=
XM_005264516.3:c.1445_1446delinsTG	XP_005264573.1:p.Met482=
XM_011533067.1:c.1448_1449delinsTG	XP_011531369.1:p.Met483=
NM_001363823.1:c.1445_1446delinsTG	NP_001350752.1:p.Met482=
NM_001363875.1:c.1349_1350delinsTG	NP_001350804.1:p.Met450=
XM_005264516.5:c.1445_1446delinsTG	XP_005264573.1:p.Met482=
XM_011533067.2:c.1448_1449delinsTG	XP_011531369.1:p.Met483=
XM_017004778.2:c.1352_1353delinsTG	XP_016860267.1:p.Met451=
NM_001363823.2:c.1445_1446delinsTG	NP_001350752.1:p.Met482=
NM_001363875.2:c.1349_1350delinsTG	NP_001350804.1:p.Met450=
NM_001377959.1:c.1352_1353delinsTG	NP_001364888.1:p.Met451=
NM_014946.4:c.1448_1449delinsTG MANE Select	NP_055761.2:p.Met483=
NM_199436.2:c.1352_1353delinsTG	NP_955468.1:p.Met451=