Canonical Allele Identifier: CA2658529227

Gene: SPAST

Linked Data

• gnomAD v4: 2-32136811-GATTAATCTCAGATGACTCACATAGCTTGGTCTTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136817_32136851del , CM000664.2:g.32136817_32136851del	GRCh38
NC_000002.11:g.32361886_32361920del , CM000664.1:g.32361886_32361920del	GRCh37
NC_000002.10:g.32215390_32215424del	NCBI36
NG_008730.1:g.78207_78241del , LRG_714:g.78207_78241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*982-60_*982-26del	ENSP00000515816.1:n.*982-60_*982-26del
ENST00000315285.9:c.1322-60_1322-26del MANE Select	ENSP00000320885.3:n.1322-60_1322-26del
ENST00000621856.2:c.1319-60_1319-26del	ENSP00000482496.2:n.1319-60_1319-26del
ENST00000642281.1:c.1059-60_1059-26del
ENST00000642455.1:c.1223-60_1223-26del	ENSP00000493827.1:n.1223-60_1223-26del
ENST00000642751.1:c.1096-60_1096-26del
ENST00000642999.1:c.1064-60_1064-26del	ENSP00000496589.1:n.1064-60_1064-26del
ENST00000643327.1:c.480+179_480+213del
ENST00000643334.1:c.902-60_902-26del
ENST00000644408.1:c.1198-60_1198-26del
ENST00000644954.1:c.968-60_968-26del	ENSP00000494312.1:n.968-60_968-26del
ENST00000645159.1:n.2059-60_2059-26del
ENST00000645671.1:c.772-60_772-26del
ENST00000645730.1:c.593-292_593-258del
ENST00000646082.1:c.968-60_968-26del
ENST00000646571.1:c.1226-60_1226-26del	ENSP00000495015.1:n.1226-60_1226-26del
ENST00000647007.1:n.1014-60_1014-26del
ENST00000647133.1:c.822-60_822-26del
ENST00000315285.7:c.1322-60_1322-26del	ENSP00000320885.3:n.1322-60_1322-26del
ENST00000345662.5:c.1226-60_1226-26del	ENSP00000340817.1:n.1226-60_1226-26del
ENST00000615843.4:c.1322-60_1322-26del	ENSP00000480893.1:n.1322-60_1322-26del
ENST00000621856.1:c.1064-60_1064-26del	ENSP00000482496.1:n.1064-60_1064-26del
NM_014946.3:c.1322-60_1322-26del , LRG_714t1:c.1322-60_1322-26del	NP_055761.2:n.1322-60_1322-26del
NM_199436.1:c.1226-60_1226-26del	NP_955468.1:n.1226-60_1226-26del
XM_005264516.3:c.1319-60_1319-26del	XP_005264573.1:n.1319-60_1319-26del
XM_011533067.1:c.1322-60_1322-26del	XP_011531369.1:n.1322-60_1322-26del
NM_001363823.1:c.1319-60_1319-26del	NP_001350752.1:n.1319-60_1319-26del
NM_001363875.1:c.1223-60_1223-26del	NP_001350804.1:n.1223-60_1223-26del
XM_005264516.5:c.1319-60_1319-26del	XP_005264573.1:n.1319-60_1319-26del
XM_011533067.2:c.1322-60_1322-26del	XP_011531369.1:n.1322-60_1322-26del
XM_017004778.2:c.1226-60_1226-26del	XP_016860267.1:n.1226-60_1226-26del
NM_001363823.2:c.1319-60_1319-26del	NP_001350752.1:n.1319-60_1319-26del
NM_001363875.2:c.1223-60_1223-26del	NP_001350804.1:n.1223-60_1223-26del
NM_001377959.1:c.1226-60_1226-26del	NP_001364888.1:n.1226-60_1226-26del
NM_014946.4:c.1322-60_1322-26del MANE Select	NP_055761.2:n.1322-60_1322-26del
NM_199436.2:c.1226-60_1226-26del	NP_955468.1:n.1226-60_1226-26del