Canonical Allele Identifier: CA1029031986

Gene: SPAST

Linked Data

• dbSNP Id: rs1679547925
• gnomAD v3: 2-32136717-CATT-C
• gnomAD v4: 2-32136717-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136721_32136723del , CM000664.2:g.32136721_32136723del	GRCh38
NC_000002.11:g.32361790_32361792del , CM000664.1:g.32361790_32361792del	GRCh37
NC_000002.10:g.32215294_32215296del	NCBI36
NG_008730.1:g.78111_78113del , LRG_714:g.78111_78113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*981+83_*981+85del	ENSP00000515816.1:n.*981+83_*981+85del
ENST00000315285.9:c.1321+83_1321+85del MANE Select	ENSP00000320885.3:n.1321+83_1321+85del
ENST00000621856.2:c.1318+83_1318+85del	ENSP00000482496.2:n.1318+83_1318+85del
ENST00000642281.1:c.1058+83_1058+85del
ENST00000642455.1:c.1222+83_1222+85del	ENSP00000493827.1:n.1222+83_1222+85del
ENST00000642751.1:c.1095+83_1095+85del
ENST00000642999.1:c.1063+83_1063+85del	ENSP00000496589.1:n.1063+83_1063+85del
ENST00000643327.1:c.480+83_480+85del
ENST00000643334.1:c.901+83_901+85del
ENST00000644408.1:c.1197+83_1197+85del
ENST00000644954.1:c.967+83_967+85del	ENSP00000494312.1:n.967+83_967+85del
ENST00000645159.1:n.2058+83_2058+85del
ENST00000645671.1:c.771+83_771+85del
ENST00000645730.1:c.593-388_593-386del
ENST00000646082.1:c.967+83_967+85del
ENST00000646571.1:c.1225+83_1225+85del	ENSP00000495015.1:n.1225+83_1225+85del
ENST00000647007.1:n.1013+83_1013+85del
ENST00000647133.1:c.821+83_821+85del
ENST00000315285.7:c.1321+83_1321+85del	ENSP00000320885.3:n.1321+83_1321+85del
ENST00000345662.5:c.1225+83_1225+85del	ENSP00000340817.1:n.1225+83_1225+85del
ENST00000615843.4:c.1321+83_1321+85del	ENSP00000480893.1:n.1321+83_1321+85del
ENST00000621856.1:c.1063+83_1063+85del	ENSP00000482496.1:n.1063+83_1063+85del
NM_014946.3:c.1321+83_1321+85del , LRG_714t1:c.1321+83_1321+85del	NP_055761.2:n.1321+83_1321+85del
NM_199436.1:c.1225+83_1225+85del	NP_955468.1:n.1225+83_1225+85del
XM_005264516.3:c.1318+83_1318+85del	XP_005264573.1:n.1318+83_1318+85del
XM_011533067.1:c.1321+83_1321+85del	XP_011531369.1:n.1321+83_1321+85del
NM_001363823.1:c.1318+83_1318+85del	NP_001350752.1:n.1318+83_1318+85del
NM_001363875.1:c.1222+83_1222+85del	NP_001350804.1:n.1222+83_1222+85del
XM_005264516.5:c.1318+83_1318+85del	XP_005264573.1:n.1318+83_1318+85del
XM_011533067.2:c.1321+83_1321+85del	XP_011531369.1:n.1321+83_1321+85del
XM_017004778.2:c.1225+83_1225+85del	XP_016860267.1:n.1225+83_1225+85del
NM_001363823.2:c.1318+83_1318+85del	NP_001350752.1:n.1318+83_1318+85del
NM_001363875.2:c.1222+83_1222+85del	NP_001350804.1:n.1222+83_1222+85del
NM_001377959.1:c.1225+83_1225+85del	NP_001364888.1:n.1225+83_1225+85del
NM_014946.4:c.1321+83_1321+85del MANE Select	NP_055761.2:n.1321+83_1321+85del
NM_199436.2:c.1225+83_1225+85del	NP_955468.1:n.1225+83_1225+85del