Canonical Allele Identifier: CA1242501162

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136590_32136592delinsGCT , CM000664.2:g.32136590_32136592delinsGCT	GRCh38
NC_000002.11:g.32361659_32361661delinsGCT , CM000664.1:g.32361659_32361661delinsGCT	GRCh37
NC_000002.10:g.32215163_32215165delinsGCT	NCBI36
NG_008730.1:g.77980_77982delinsGCT , LRG_714:g.77980_77982delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*933_*935delinsGCT	ENSP00000515816.1:n.*933_*935delinsGCT
ENST00000315285.9:c.1273_1275delinsGCT MANE Select	ENSP00000320885.3:p.Ala425=
ENST00000621856.2:c.1270_1272delinsGCT	ENSP00000482496.2:p.Ala424=
ENST00000642281.1:c.1010_1012delinsGCT
ENST00000642455.1:c.1174_1176delinsGCT	ENSP00000493827.1:p.Ala392=
ENST00000642751.1:c.1047_1049delinsGCT
ENST00000642999.1:c.1015_1017delinsGCT	ENSP00000496589.1:p.Ala339=
ENST00000643327.1:c.432_434delinsGCT
ENST00000643334.1:c.853_855delinsGCT
ENST00000644408.1:c.1149_1151delinsGCT
ENST00000644954.1:c.919_921delinsGCT	ENSP00000494312.1:p.Ala307=
ENST00000645159.1:n.2010_2012delinsGCT
ENST00000645671.1:c.723_725delinsGCT
ENST00000645730.1:c.593-519_593-517delinsGCT
ENST00000646082.1:c.919_921delinsGCT
ENST00000646571.1:c.1177_1179delinsGCT	ENSP00000495015.1:p.Ala393=
ENST00000647007.1:n.965_967delinsGCT
ENST00000647133.1:c.773_775delinsGCT
ENST00000315285.7:c.1273_1275delinsGCT	ENSP00000320885.3:p.Ala425=
ENST00000345662.5:c.1177_1179delinsGCT	ENSP00000340817.1:p.Ala393=
ENST00000615843.4:c.1273_1275delinsGCT	ENSP00000480893.1:p.Ala425=
ENST00000621856.1:c.1015_1017delinsGCT	ENSP00000482496.1:p.Ala339=
NM_014946.3:c.1273_1275delinsGCT , LRG_714t1:c.1273_1275delinsGCT	NP_055761.2:p.Ala425=
NM_199436.1:c.1177_1179delinsGCT	NP_955468.1:p.Ala393=
XM_005264516.3:c.1270_1272delinsGCT	XP_005264573.1:p.Ala424=
XM_011533067.1:c.1273_1275delinsGCT	XP_011531369.1:p.Ala425=
NM_001363823.1:c.1270_1272delinsGCT	NP_001350752.1:p.Ala424=
NM_001363875.1:c.1174_1176delinsGCT	NP_001350804.1:p.Ala392=
XM_005264516.5:c.1270_1272delinsGCT	XP_005264573.1:p.Ala424=
XM_011533067.2:c.1273_1275delinsGCT	XP_011531369.1:p.Ala425=
XM_017004778.2:c.1177_1179delinsGCT	XP_016860267.1:p.Ala393=
NM_001363823.2:c.1270_1272delinsGCT	NP_001350752.1:p.Ala424=
NM_001363875.2:c.1174_1176delinsGCT	NP_001350804.1:p.Ala392=
NM_001377959.1:c.1177_1179delinsGCT	NP_001364888.1:p.Ala393=
NM_014946.4:c.1273_1275delinsGCT MANE Select	NP_055761.2:p.Ala425=
NM_199436.2:c.1177_1179delinsGCT	NP_955468.1:p.Ala393=