Canonical Allele Identifier: CA1242501235

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136614_32136615delinsCT , CM000664.2:g.32136614_32136615delinsCT	GRCh38
NC_000002.11:g.32361683_32361684delinsCT , CM000664.1:g.32361683_32361684delinsCT	GRCh37
NC_000002.10:g.32215187_32215188delinsCT	NCBI36
NG_008730.1:g.78004_78005delinsCT , LRG_714:g.78004_78005delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*957_*958delinsCT	ENSP00000515816.1:n.*957_*958delinsCT
ENST00000315285.9:c.1297_1298delinsCT MANE Select	ENSP00000320885.3:p.Leu433=
ENST00000621856.2:c.1294_1295delinsCT	ENSP00000482496.2:p.Leu432=
ENST00000642281.1:c.1034_1035delinsCT
ENST00000642455.1:c.1198_1199delinsCT	ENSP00000493827.1:p.Leu400=
ENST00000642751.1:c.1071_1072delinsCT
ENST00000642999.1:c.1039_1040delinsCT	ENSP00000496589.1:p.Leu347=
ENST00000643327.1:c.456_457delinsCT
ENST00000643334.1:c.877_878delinsCT
ENST00000644408.1:c.1173_1174delinsCT
ENST00000644954.1:c.943_944delinsCT	ENSP00000494312.1:p.Leu315=
ENST00000645159.1:n.2034_2035delinsCT
ENST00000645671.1:c.747_748delinsCT
ENST00000645730.1:c.593-495_593-494delinsCT
ENST00000646082.1:c.943_944delinsCT
ENST00000646571.1:c.1201_1202delinsCT	ENSP00000495015.1:p.Leu401=
ENST00000647007.1:n.989_990delinsCT
ENST00000647133.1:c.797_798delinsCT
ENST00000315285.7:c.1297_1298delinsCT	ENSP00000320885.3:p.Leu433=
ENST00000345662.5:c.1201_1202delinsCT	ENSP00000340817.1:p.Leu401=
ENST00000615843.4:c.1297_1298delinsCT	ENSP00000480893.1:p.Leu433=
ENST00000621856.1:c.1039_1040delinsCT	ENSP00000482496.1:p.Leu347=
NM_014946.3:c.1297_1298delinsCT , LRG_714t1:c.1297_1298delinsCT	NP_055761.2:p.Leu433=
NM_199436.1:c.1201_1202delinsCT	NP_955468.1:p.Leu401=
XM_005264516.3:c.1294_1295delinsCT	XP_005264573.1:p.Leu432=
XM_011533067.1:c.1297_1298delinsCT	XP_011531369.1:p.Leu433=
NM_001363823.1:c.1294_1295delinsCT	NP_001350752.1:p.Leu432=
NM_001363875.1:c.1198_1199delinsCT	NP_001350804.1:p.Leu400=
XM_005264516.5:c.1294_1295delinsCT	XP_005264573.1:p.Leu432=
XM_011533067.2:c.1297_1298delinsCT	XP_011531369.1:p.Leu433=
XM_017004778.2:c.1201_1202delinsCT	XP_016860267.1:p.Leu401=
NM_001363823.2:c.1294_1295delinsCT	NP_001350752.1:p.Leu432=
NM_001363875.2:c.1198_1199delinsCT	NP_001350804.1:p.Leu400=
NM_001377959.1:c.1201_1202delinsCT	NP_001364888.1:p.Leu401=
NM_014946.4:c.1297_1298delinsCT MANE Select	NP_055761.2:p.Leu433=
NM_199436.2:c.1201_1202delinsCT	NP_955468.1:p.Leu401=