Canonical Allele Identifier: CA2586964711
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128410dup , CM000664.2:g.32128410dup GRCh38
NC_000002.11:g.32353479dup , CM000664.1:g.32353479dup GRCh37
NC_000002.10:g.32206983dup NCBI36
NG_008730.1:g.69800dup , LRG_714:g.69800dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*836dup ENSP00000515816.1:n.*836dup
ENST00000315285.9:c.1176dup MANE Select ENSP00000320885.3:p.Lys393Ter
ENST00000621856.2:c.1173dup ENSP00000482496.2:p.Lys392Ter
ENST00000642281.1:c.983-8153dup
ENST00000642455.1:c.1077dup ENSP00000493827.1:p.Lys360Ter
ENST00000642751.1:c.950dup
ENST00000642999.1:c.918dup ENSP00000496589.1:p.Lys307Ter
ENST00000643327.1:c.335dup
ENST00000643334.1:c.756dup
ENST00000644408.1:c.1052dup
ENST00000644954.1:c.822dup ENSP00000494312.1:p.Lys275Ter
ENST00000645159.1:n.1913dup
ENST00000645550.1:n.389dup
ENST00000645671.1:c.626dup
ENST00000645730.1:c.523dup
ENST00000646082.1:c.822dup
ENST00000646571.1:c.1080dup ENSP00000495015.1:p.Lys361Ter
ENST00000647007.1:n.868dup
ENST00000647133.1:c.676dup
ENST00000315285.7:c.1176dup ENSP00000320885.3:p.Lys393Ter
ENST00000345662.5:c.1080dup ENSP00000340817.1:p.Lys361Ter
ENST00000615843.4:c.1176dup ENSP00000480893.1:p.Lys393Ter
ENST00000621856.1:c.918dup ENSP00000482496.1:p.Lys307Ter
NM_014946.3:c.1176dup , LRG_714t1:c.1176dup NP_055761.2:p.Lys393Ter
NM_199436.1:c.1080dup NP_955468.1:p.Lys361Ter
XM_005264516.3:c.1173dup XP_005264573.1:p.Lys392Ter
XM_011533067.1:c.1176dup XP_011531369.1:p.Lys393Ter
NM_001363823.1:c.1173dup NP_001350752.1:p.Lys392Ter
NM_001363875.1:c.1077dup NP_001350804.1:p.Lys360Ter
XM_005264516.5:c.1173dup XP_005264573.1:p.Lys392Ter
XM_011533067.2:c.1176dup XP_011531369.1:p.Lys393Ter
XM_017004778.2:c.1080dup XP_016860267.1:p.Lys361Ter
NM_001363823.2:c.1173dup NP_001350752.1:p.Lys392Ter
NM_001363875.2:c.1077dup NP_001350804.1:p.Lys360Ter
NM_001377959.1:c.1080dup NP_001364888.1:p.Lys361Ter
NM_014946.4:c.1176dup MANE Select NP_055761.2:p.Lys393Ter
NM_199436.2:c.1080dup NP_955468.1:p.Lys361Ter