Canonical Allele Identifier: CA2576929932

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063945_32063949dup , CM000664.2:g.32063945_32063949dup	GRCh38
NC_000002.11:g.32289014_32289018dup , CM000664.1:g.32289014_32289018dup	GRCh37
NC_000002.10:g.32142518_32142522dup	NCBI36
NG_008730.1:g.5335_5339dup , LRG_714:g.5335_5339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.114_118dup	ENSP00000515816.1:p.Pro40ArgfsTer22
ENST00000315285.9:c.114_118dup MANE Select	ENSP00000320885.3:p.Pro40ArgfsTer22
ENST00000621856.2:c.114_118dup	ENSP00000482496.2:p.Pro40ArgfsTer22
ENST00000642455.1:c.114_118dup	ENSP00000493827.1:p.Pro40ArgfsTer22
ENST00000646571.1:c.114_118dup	ENSP00000495015.1:p.Pro40ArgfsTer22
ENST00000315285.7:c.114_118dup	ENSP00000320885.3:p.Pro40ArgfsTer22
ENST00000345662.5:c.114_118dup	ENSP00000340817.1:p.Pro40ArgfsTer22
ENST00000615843.4:c.114_118dup	ENSP00000480893.1:p.Pro40ArgfsTer22
NM_014946.3:c.114_118dup , LRG_714t1:c.114_118dup	NP_055761.2:p.Pro40ArgfsTer22
NM_199436.1:c.114_118dup	NP_955468.1:p.Pro40ArgfsTer22
XM_005264516.3:c.114_118dup	XP_005264573.1:p.Pro40ArgfsTer22
XM_011533067.1:c.114_118dup	XP_011531369.1:p.Pro40ArgfsTer22
NM_001363823.1:c.114_118dup	NP_001350752.1:p.Pro40ArgfsTer22
NM_001363875.1:c.114_118dup	NP_001350804.1:p.Pro40ArgfsTer22
XM_005264516.5:c.114_118dup	XP_005264573.1:p.Pro40ArgfsTer22
XM_011533067.2:c.114_118dup	XP_011531369.1:p.Pro40ArgfsTer22
XM_017004778.2:c.114_118dup	XP_016860267.1:p.Pro40ArgfsTer22
NM_001363823.2:c.114_118dup	NP_001350752.1:p.Pro40ArgfsTer22
NM_001363875.2:c.114_118dup	NP_001350804.1:p.Pro40ArgfsTer22
NM_001377959.1:c.114_118dup	NP_001364888.1:p.Pro40ArgfsTer22
NM_014946.4:c.114_118dup MANE Select	NP_055761.2:p.Pro40ArgfsTer22
NM_199436.2:c.114_118dup	NP_955468.1:p.Pro40ArgfsTer22