Canonical Allele Identifier: CA2586964662

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126986_32126991del , CM000664.2:g.32126986_32126991del	GRCh38
NC_000002.11:g.32352055_32352060del , CM000664.1:g.32352055_32352060del	GRCh37
NC_000002.10:g.32205559_32205564del	NCBI36
NG_008730.1:g.68376_68381del , LRG_714:g.68376_68381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*797_*802del	ENSP00000515816.1:n.*797_*802del
ENST00000315285.9:c.1137_1142del MANE Select	ENSP00000320885.3:p.Leu379_Leu380del
ENST00000621856.2:c.1134_1139del	ENSP00000482496.2:p.Leu378_Leu379del
ENST00000642281.1:c.983-9577_983-9572del
ENST00000642455.1:c.1038_1043del	ENSP00000493827.1:p.Leu346_Leu347del
ENST00000642751.1:c.911_916del
ENST00000642999.1:c.879_884del	ENSP00000496589.1:p.Leu293_Leu294del
ENST00000643327.1:c.296_301del
ENST00000643334.1:c.717_722del
ENST00000644408.1:c.1013_1018del
ENST00000644954.1:c.783_788del	ENSP00000494312.1:p.Leu261_Leu262del
ENST00000645159.1:n.489_494del
ENST00000645550.1:n.350_355del
ENST00000645671.1:c.587_592del
ENST00000645730.1:c.484_489del
ENST00000646082.1:c.783_788del
ENST00000646571.1:c.1041_1046del	ENSP00000495015.1:p.Leu347_Leu348del
ENST00000647007.1:n.829_834del
ENST00000647133.1:c.674-1422_674-1417del
ENST00000315285.7:c.1137_1142del	ENSP00000320885.3:p.Leu379_Leu380del
ENST00000345662.5:c.1041_1046del	ENSP00000340817.1:p.Leu347_Leu348del
ENST00000615843.4:c.1137_1142del	ENSP00000480893.1:p.Leu379_Leu380del
ENST00000621856.1:c.879_884del	ENSP00000482496.1:p.Leu293_Leu294del
NM_014946.3:c.1137_1142del , LRG_714t1:c.1137_1142del	NP_055761.2:p.Leu379_Leu380del
NM_199436.1:c.1041_1046del	NP_955468.1:p.Leu347_Leu348del
XM_005264516.3:c.1134_1139del	XP_005264573.1:p.Leu378_Leu379del
XM_011533067.1:c.1137_1142del	XP_011531369.1:p.Leu379_Leu380del
NM_001363823.1:c.1134_1139del	NP_001350752.1:p.Leu378_Leu379del
NM_001363875.1:c.1038_1043del	NP_001350804.1:p.Leu346_Leu347del
XM_005264516.5:c.1134_1139del	XP_005264573.1:p.Leu378_Leu379del
XM_011533067.2:c.1137_1142del	XP_011531369.1:p.Leu379_Leu380del
XM_017004778.2:c.1041_1046del	XP_016860267.1:p.Leu347_Leu348del
NM_001363823.2:c.1134_1139del	NP_001350752.1:p.Leu378_Leu379del
NM_001363875.2:c.1038_1043del	NP_001350804.1:p.Leu346_Leu347del
NM_001377959.1:c.1041_1046del	NP_001364888.1:p.Leu347_Leu348del
NM_014946.4:c.1137_1142del MANE Select	NP_055761.2:p.Leu379_Leu380del
NM_199436.2:c.1041_1046del	NP_955468.1:p.Leu347_Leu348del