Canonical Allele Identifier: CA2839512385

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064040_32064041dup , CM000664.2:g.32064040_32064041dup	GRCh38
NC_000002.11:g.32289109_32289110dup , CM000664.1:g.32289109_32289110dup	GRCh37
NC_000002.10:g.32142613_32142614dup	NCBI36
NG_008730.1:g.5430_5431dup , LRG_714:g.5430_5431dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.209_210dup	ENSP00000515816.1:p.Leu71ThrfsTer?
ENST00000315285.9:c.209_210dup MANE Select	ENSP00000320885.3:p.Leu71ThrfsTer?
ENST00000621856.2:c.209_210dup	ENSP00000482496.2:p.Leu71ThrfsTer?
ENST00000642281.1:c.93_94dup
ENST00000642455.1:c.209_210dup	ENSP00000493827.1:p.Leu71ThrfsTer?
ENST00000642751.1:c.79_80dup
ENST00000642999.1:c.-50_-49dup	ENSP00000496589.1:n.-50_-49dup
ENST00000644408.1:c.85_86dup
ENST00000644954.1:c.-50_-49dup	ENSP00000494312.1:n.-50_-49dup
ENST00000645400.1:c.50_51dup	ENSP00000496306.1:p.Leu18ThrfsTer?
ENST00000646082.1:c.43_44dup
ENST00000646571.1:c.209_210dup	ENSP00000495015.1:p.Leu71ThrfsTer?
ENST00000315285.7:c.209_210dup	ENSP00000320885.3:p.Leu71ThrfsTer?
ENST00000345662.5:c.209_210dup	ENSP00000340817.1:p.Leu71ThrfsTer?
ENST00000615843.4:c.209_210dup	ENSP00000480893.1:p.Leu71ThrfsTer?
ENST00000621856.1:c.-50_-49dup	ENSP00000482496.1:n.-50_-49dup
NM_014946.3:c.209_210dup , LRG_714t1:c.209_210dup	NP_055761.2:p.Leu71ThrfsTer?
NM_199436.1:c.209_210dup	NP_955468.1:p.Leu71ThrfsTer?
XM_005264516.3:c.209_210dup	XP_005264573.1:p.Leu71ThrfsTer?
XM_011533067.1:c.209_210dup	XP_011531369.1:p.Leu71ThrfsTer?
NM_001363823.1:c.209_210dup	NP_001350752.1:p.Leu71ThrfsTer?
NM_001363875.1:c.209_210dup	NP_001350804.1:p.Leu71ThrfsTer?
XM_005264516.5:c.209_210dup	XP_005264573.1:p.Leu71ThrfsTer?
XM_011533067.2:c.209_210dup	XP_011531369.1:p.Leu71ThrfsTer?
XM_017004778.2:c.209_210dup	XP_016860267.1:p.Leu71ThrfsTer?
NM_001363823.2:c.209_210dup	NP_001350752.1:p.Leu71ThrfsTer?
NM_001363875.2:c.209_210dup	NP_001350804.1:p.Leu71ThrfsTer?
NM_001377959.1:c.209_210dup	NP_001364888.1:p.Leu71ThrfsTer?
NM_014946.4:c.209_210dup MANE Select	NP_055761.2:p.Leu71ThrfsTer?
NM_199436.2:c.209_210dup	NP_955468.1:p.Leu71ThrfsTer?