Canonical Allele Identifier: CA2586964777
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32137134_32137140delinsC , CM000664.2:g.32137134_32137140delinsC GRCh38
NC_000002.11:g.32362203_32362209delinsC , CM000664.1:g.32362203_32362209delinsC GRCh37
NC_000002.10:g.32215707_32215713delinsC NCBI36
NG_008730.1:g.78524_78530delinsC , LRG_714:g.78524_78530delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000704289.1:c.*1099_*1105delinsC ENSP00000515816.1:n.*1099_*1105delinsC
ENST00000315285.9:c.1439_1445delinsC MANE Select ENSP00000320885.3:p.Val480_Val482delinsAl...
ENST00000621856.2:c.1436_1442delinsC ENSP00000482496.2:p.Val479_Val481delinsAl...
ENST00000642281.1:c.1176_1182delinsC
ENST00000642455.1:c.1340_1346delinsC ENSP00000493827.1:p.Val447_Val449delinsAl...
ENST00000642751.1:c.1213_1219delinsC
ENST00000642999.1:c.1181_1187delinsC ENSP00000496589.1:p.Val394_Val396delinsAl...
ENST00000643327.1:c.506_512delinsC
ENST00000643334.1:c.1019_1025delinsC
ENST00000644408.1:c.1315_1321delinsC
ENST00000644954.1:c.1085_1091delinsC ENSP00000494312.1:p.Val362_Val364delinsAl...
ENST00000645159.1:n.2176_2182delinsC
ENST00000645671.1:c.889_895delinsC
ENST00000645730.1:c.618_624delinsC
ENST00000646082.1:c.1085_1091delinsC
ENST00000646571.1:c.1343_1349delinsC ENSP00000495015.1:p.Val448_Val450delinsAl...
ENST00000647007.1:n.1131_1137delinsC
ENST00000647133.1:c.939_945delinsC
ENST00000315285.7:c.1439_1445delinsC ENSP00000320885.3:p.Val480_Val482delinsAl...
ENST00000345662.5:c.1343_1349delinsC ENSP00000340817.1:p.Val448_Val450delinsAl...
ENST00000615843.4:c.1439_1445delinsC ENSP00000480893.1:p.Val480_Val482delinsAl...
ENST00000621856.1:c.1181_1187delinsC ENSP00000482496.1:p.Val394_Val396delinsAl...
NM_014946.3:c.1439_1445delinsC , LRG_714t1:c.1439_1445delinsC NP_055761.2:p.Val480_Val482delinsAla
NM_199436.1:c.1343_1349delinsC NP_955468.1:p.Val448_Val450delinsAla
XM_005264516.3:c.1436_1442delinsC XP_005264573.1:p.Val479_Val481delinsAla
XM_011533067.1:c.1439_1445delinsC XP_011531369.1:p.Val480_Val482delinsAla
NM_001363823.1:c.1436_1442delinsC NP_001350752.1:p.Val479_Val481delinsAla
NM_001363875.1:c.1340_1346delinsC NP_001350804.1:p.Val447_Val449delinsAla
XM_005264516.5:c.1436_1442delinsC XP_005264573.1:p.Val479_Val481delinsAla
XM_011533067.2:c.1439_1445delinsC XP_011531369.1:p.Val480_Val482delinsAla
XM_017004778.2:c.1343_1349delinsC XP_016860267.1:p.Val448_Val450delinsAla
NM_001363823.2:c.1436_1442delinsC NP_001350752.1:p.Val479_Val481delinsAla
NM_001363875.2:c.1340_1346delinsC NP_001350804.1:p.Val447_Val449delinsAla
NM_001377959.1:c.1343_1349delinsC NP_001364888.1:p.Val448_Val450delinsAla
NM_014946.4:c.1439_1445delinsC MANE Select NP_055761.2:p.Val480_Val482delinsAla
NM_199436.2:c.1343_1349delinsC NP_955468.1:p.Val448_Val450delinsAla