Canonical Allele Identifier: CA767798503

Gene: SPAST

Linked Data

• dbSNP Id: rs1173883731
• gnomAD v3: 2-32146567-TTAAAAAG-T
• gnomAD v4: 2-32146567-TTAAAAAG-T
• MyVariant Identifiers: chr2:g.32371637_32371643del (hg19) ; chr2:g.32146568_32146574del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32146572_32146578del , CM000664.2:g.32146572_32146578del	GRCh38
NC_000002.11:g.32371641_32371647del , CM000664.1:g.32371641_32371647del	GRCh37
NC_000002.10:g.32225145_32225151del	NCBI36
NG_008730.1:g.87962_87968del , LRG_714:g.87962_87968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1348-646_*1348-640del	ENSP00000515816.1:n.*1348-646_*1348-640del
ENST00000315285.9:c.1688-646_1688-640del MANE Select	ENSP00000320885.3:n.1688-646_1688-640del
ENST00000621856.2:c.1685-646_1685-640del	ENSP00000482496.2:n.1685-646_1685-640del
ENST00000642281.1:c.1425-646_1425-640del
ENST00000642455.1:c.1589-646_1589-640del	ENSP00000493827.1:n.1589-646_1589-640del
ENST00000642751.1:c.1391-646_1391-640del
ENST00000642999.1:c.1430-646_1430-640del	ENSP00000496589.1:n.1430-646_1430-640del
ENST00000643334.1:c.1268-646_1268-640del
ENST00000644408.1:c.1564-623_1564-617del
ENST00000644954.1:c.1334-646_1334-640del	ENSP00000494312.1:n.1334-646_1334-640del
ENST00000645159.1:n.2425-646_2425-640del
ENST00000645671.1:c.1067-646_1067-640del
ENST00000645730.1:c.867-646_867-640del
ENST00000646082.1:c.1334-646_1334-640del
ENST00000646571.1:c.1592-646_1592-640del	ENSP00000495015.1:n.1592-646_1592-640del
ENST00000647007.1:n.1380-646_1380-640del
ENST00000647133.1:c.1188-646_1188-640del
ENST00000315285.7:c.1688-646_1688-640del	ENSP00000320885.3:n.1688-646_1688-640del
ENST00000345662.5:c.1592-646_1592-640del	ENSP00000340817.1:n.1592-646_1592-640del
ENST00000615843.4:c.1688-646_1688-640del	ENSP00000480893.1:n.1688-646_1688-640del
ENST00000621856.1:c.1430-646_1430-640del	ENSP00000482496.1:n.1430-646_1430-640del
NM_014946.3:c.1688-646_1688-640del , LRG_714t1:c.1688-646_1688-640del	NP_055761.2:n.1688-646_1688-640del
NM_199436.1:c.1592-646_1592-640del	NP_955468.1:n.1592-646_1592-640del
XM_005264516.3:c.1685-646_1685-640del	XP_005264573.1:n.1685-646_1685-640del
XM_011533067.1:c.1617-646_1617-640del	XP_011531369.1:n.1617-646_1617-640del
NM_001363823.1:c.1685-646_1685-640del	NP_001350752.1:n.1685-646_1685-640del
NM_001363875.1:c.1589-646_1589-640del	NP_001350804.1:n.1589-646_1589-640del
XM_005264516.5:c.1685-646_1685-640del	XP_005264573.1:n.1685-646_1685-640del
XM_011533067.2:c.1617-646_1617-640del	XP_011531369.1:n.1617-646_1617-640del
XM_017004778.2:c.1521-646_1521-640del	XP_016860267.1:n.1521-646_1521-640del
NM_001363823.2:c.1685-646_1685-640del	NP_001350752.1:n.1685-646_1685-640del
NM_001363875.2:c.1589-646_1589-640del	NP_001350804.1:n.1589-646_1589-640del
NM_001377959.1:c.1521-646_1521-640del	NP_001364888.1:n.1521-646_1521-640del
NM_014946.4:c.1688-646_1688-640del MANE Select	NP_055761.2:n.1688-646_1688-640del
NM_199436.2:c.1592-646_1592-640del	NP_955468.1:n.1592-646_1592-640del