Canonical Allele Identifier: CA1242506798

Gene: SPAST

Linked Data

• dbSNP Id: rs1679902612

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32146851_32146853del , CM000664.2:g.32146851_32146853del	GRCh38
NC_000002.11:g.32371920_32371922del , CM000664.1:g.32371920_32371922del	GRCh37
NC_000002.10:g.32225424_32225426del	NCBI36
NG_008730.1:g.88241_88243del , LRG_714:g.88241_88243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1348-367_*1348-365del	ENSP00000515816.1:n.*1348-367_*1348-365del
ENST00000315285.9:c.1688-367_1688-365del MANE Select	ENSP00000320885.3:n.1688-367_1688-365del
ENST00000621856.2:c.1685-367_1685-365del	ENSP00000482496.2:n.1685-367_1685-365del
ENST00000642281.1:c.1425-367_1425-365del
ENST00000642455.1:c.1589-367_1589-365del	ENSP00000493827.1:n.1589-367_1589-365del
ENST00000642751.1:c.1391-367_1391-365del
ENST00000642999.1:c.1430-367_1430-365del	ENSP00000496589.1:n.1430-367_1430-365del
ENST00000643334.1:c.1268-367_1268-365del
ENST00000644408.1:c.1564-344_1564-342del
ENST00000644954.1:c.1334-367_1334-365del	ENSP00000494312.1:n.1334-367_1334-365del
ENST00000645159.1:n.2425-367_2425-365del
ENST00000645671.1:c.1067-367_1067-365del
ENST00000645730.1:c.867-367_867-365del
ENST00000646082.1:c.1334-367_1334-365del
ENST00000646571.1:c.1592-367_1592-365del	ENSP00000495015.1:n.1592-367_1592-365del
ENST00000647007.1:n.1380-367_1380-365del
ENST00000647133.1:c.1188-367_1188-365del
ENST00000315285.7:c.1688-367_1688-365del	ENSP00000320885.3:n.1688-367_1688-365del
ENST00000345662.5:c.1592-367_1592-365del	ENSP00000340817.1:n.1592-367_1592-365del
ENST00000615843.4:c.1688-367_1688-365del	ENSP00000480893.1:n.1688-367_1688-365del
ENST00000621856.1:c.1430-367_1430-365del	ENSP00000482496.1:n.1430-367_1430-365del
NM_014946.3:c.1688-367_1688-365del , LRG_714t1:c.1688-367_1688-365del	NP_055761.2:n.1688-367_1688-365del
NM_199436.1:c.1592-367_1592-365del	NP_955468.1:n.1592-367_1592-365del
XM_005264516.3:c.1685-367_1685-365del	XP_005264573.1:n.1685-367_1685-365del
XM_011533067.1:c.1617-367_1617-365del	XP_011531369.1:n.1617-367_1617-365del
NM_001363823.1:c.1685-367_1685-365del	NP_001350752.1:n.1685-367_1685-365del
NM_001363875.1:c.1589-367_1589-365del	NP_001350804.1:n.1589-367_1589-365del
XM_005264516.5:c.1685-367_1685-365del	XP_005264573.1:n.1685-367_1685-365del
XM_011533067.2:c.1617-367_1617-365del	XP_011531369.1:n.1617-367_1617-365del
XM_017004778.2:c.1521-367_1521-365del	XP_016860267.1:n.1521-367_1521-365del
NM_001363823.2:c.1685-367_1685-365del	NP_001350752.1:n.1685-367_1685-365del
NM_001363875.2:c.1589-367_1589-365del	NP_001350804.1:n.1589-367_1589-365del
NM_001377959.1:c.1521-367_1521-365del	NP_001364888.1:n.1521-367_1521-365del
NM_014946.4:c.1688-367_1688-365del MANE Select	NP_055761.2:n.1688-367_1688-365del
NM_199436.2:c.1592-367_1592-365del	NP_955468.1:n.1592-367_1592-365del