Canonical Allele Identifier: CA44757875

Gene: SPAST

Linked Data

• dbSNP Id: rs397984237
• gnomAD v3: 2-32146851-CA-C
• gnomAD v4: 2-32146851-CA-C
• MyVariant Identifiers: chr2:g.32371921del (hg19) ; chr2:g.32146852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32146880del , CM000664.2:g.32146880del	GRCh38
NC_000002.11:g.32371949del , CM000664.1:g.32371949del	GRCh37
NC_000002.10:g.32225453del	NCBI36
NG_008730.1:g.88270del , LRG_714:g.88270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1348-338del	ENSP00000515816.1:n.*1348-338del
ENST00000315285.9:c.1688-338del MANE Select	ENSP00000320885.3:n.1688-338del
ENST00000621856.2:c.1685-338del	ENSP00000482496.2:n.1685-338del
ENST00000642281.1:c.1425-338del
ENST00000642455.1:c.1589-338del	ENSP00000493827.1:n.1589-338del
ENST00000642751.1:c.1391-338del
ENST00000642999.1:c.1430-338del	ENSP00000496589.1:n.1430-338del
ENST00000643334.1:c.1268-338del
ENST00000644408.1:c.1564-315del
ENST00000644954.1:c.1334-338del	ENSP00000494312.1:n.1334-338del
ENST00000645159.1:n.2425-338del
ENST00000645671.1:c.1067-338del
ENST00000645730.1:c.867-338del
ENST00000646082.1:c.1334-338del
ENST00000646571.1:c.1592-338del	ENSP00000495015.1:n.1592-338del
ENST00000647007.1:n.1380-338del
ENST00000647133.1:c.1188-338del
ENST00000315285.7:c.1688-338del	ENSP00000320885.3:n.1688-338del
ENST00000345662.5:c.1592-338del	ENSP00000340817.1:n.1592-338del
ENST00000615843.4:c.1688-338del	ENSP00000480893.1:n.1688-338del
ENST00000621856.1:c.1430-338del	ENSP00000482496.1:n.1430-338del
NM_014946.3:c.1688-338del , LRG_714t1:c.1688-338del	NP_055761.2:n.1688-338del
NM_199436.1:c.1592-338del	NP_955468.1:n.1592-338del
XM_005264516.3:c.1685-338del	XP_005264573.1:n.1685-338del
XM_011533067.1:c.1617-338del	XP_011531369.1:n.1617-338del
NM_001363823.1:c.1685-338del	NP_001350752.1:n.1685-338del
NM_001363875.1:c.1589-338del	NP_001350804.1:n.1589-338del
XM_005264516.5:c.1685-338del	XP_005264573.1:n.1685-338del
XM_011533067.2:c.1617-338del	XP_011531369.1:n.1617-338del
XM_017004778.2:c.1521-338del	XP_016860267.1:n.1521-338del
NM_001363823.2:c.1685-338del	NP_001350752.1:n.1685-338del
NM_001363875.2:c.1589-338del	NP_001350804.1:n.1589-338del
NM_001377959.1:c.1521-338del	NP_001364888.1:n.1521-338del
NM_014946.4:c.1688-338del MANE Select	NP_055761.2:n.1688-338del
NM_199436.2:c.1592-338del	NP_955468.1:n.1592-338del