Canonical Allele Identifier: CA2658529156

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136569-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136570_32136571dup , CM000664.2:g.32136570_32136571dup	GRCh38
NC_000002.11:g.32361639_32361640dup , CM000664.1:g.32361639_32361640dup	GRCh37
NC_000002.10:g.32215143_32215144dup	NCBI36
NG_008730.1:g.77960_77961dup , LRG_714:g.77960_77961dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*913_*914dup	ENSP00000515816.1:n.*913_*914dup
ENST00000315285.9:c.1253_1254dup MANE Select	ENSP00000320885.3:p.Gly419LysfsTer6
ENST00000621856.2:c.1250_1251dup	ENSP00000482496.2:p.Gly418LysfsTer6
ENST00000642281.1:c.990_991dup
ENST00000642455.1:c.1154_1155dup	ENSP00000493827.1:p.Gly386LysfsTer6
ENST00000642751.1:c.1027_1028dup
ENST00000642999.1:c.995_996dup	ENSP00000496589.1:p.Gly333LysfsTer6
ENST00000643327.1:c.412_413dup
ENST00000643334.1:c.833_834dup
ENST00000644408.1:c.1129_1130dup
ENST00000644954.1:c.899_900dup	ENSP00000494312.1:p.Gly301LysfsTer6
ENST00000645159.1:n.1990_1991dup
ENST00000645671.1:c.703_704dup
ENST00000645730.1:c.593-539_593-538dup
ENST00000646082.1:c.899_900dup
ENST00000646571.1:c.1157_1158dup	ENSP00000495015.1:p.Gly387LysfsTer6
ENST00000647007.1:n.945_946dup
ENST00000647133.1:c.753_754dup
ENST00000315285.7:c.1253_1254dup	ENSP00000320885.3:p.Gly419LysfsTer6
ENST00000345662.5:c.1157_1158dup	ENSP00000340817.1:p.Gly387LysfsTer6
ENST00000615843.4:c.1253_1254dup	ENSP00000480893.1:p.Gly419LysfsTer6
ENST00000621856.1:c.995_996dup	ENSP00000482496.1:p.Gly333LysfsTer6
NM_014946.3:c.1253_1254dup , LRG_714t1:c.1253_1254dup	NP_055761.2:p.Gly419LysfsTer6
NM_199436.1:c.1157_1158dup	NP_955468.1:p.Gly387LysfsTer6
XM_005264516.3:c.1250_1251dup	XP_005264573.1:p.Gly418LysfsTer6
XM_011533067.1:c.1253_1254dup	XP_011531369.1:p.Gly419LysfsTer6
NM_001363823.1:c.1250_1251dup	NP_001350752.1:p.Gly418LysfsTer6
NM_001363875.1:c.1154_1155dup	NP_001350804.1:p.Gly386LysfsTer6
XM_005264516.5:c.1250_1251dup	XP_005264573.1:p.Gly418LysfsTer6
XM_011533067.2:c.1253_1254dup	XP_011531369.1:p.Gly419LysfsTer6
XM_017004778.2:c.1157_1158dup	XP_016860267.1:p.Gly387LysfsTer6
NM_001363823.2:c.1250_1251dup	NP_001350752.1:p.Gly418LysfsTer6
NM_001363875.2:c.1154_1155dup	NP_001350804.1:p.Gly386LysfsTer6
NM_001377959.1:c.1157_1158dup	NP_001364888.1:p.Gly387LysfsTer6
NM_014946.4:c.1253_1254dup MANE Select	NP_055761.2:p.Gly419LysfsTer6
NM_199436.2:c.1157_1158dup	NP_955468.1:p.Gly387LysfsTer6