Canonical Allele Identifier: CA2695195470

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128448del , CM000664.2:g.32128448del	GRCh38
NC_000002.11:g.32353517del , CM000664.1:g.32353517del	GRCh37
NC_000002.10:g.32207021del	NCBI36
NG_008730.1:g.69838del , LRG_714:g.69838del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*874del	ENSP00000515816.1:n.*874del
ENST00000315285.9:c.1214del MANE Select	ENSP00000320885.3:p.Asn405IlefsTer2
ENST00000621856.2:c.1211del	ENSP00000482496.2:p.Asn404IlefsTer2
ENST00000642281.1:c.983-8115del
ENST00000642455.1:c.1115del	ENSP00000493827.1:p.Asn372IlefsTer2
ENST00000642751.1:c.988del
ENST00000642999.1:c.956del	ENSP00000496589.1:p.Asn319IlefsTer2
ENST00000643327.1:c.373del
ENST00000643334.1:c.794del
ENST00000644408.1:c.1090del
ENST00000644954.1:c.860del	ENSP00000494312.1:p.Asn287IlefsTer2
ENST00000645159.1:n.1951del
ENST00000645550.1:n.427del
ENST00000645671.1:c.664del
ENST00000645730.1:c.561del
ENST00000646082.1:c.860del
ENST00000646571.1:c.1118del	ENSP00000495015.1:p.Asn373IlefsTer2
ENST00000647007.1:n.906del
ENST00000647133.1:c.714del
ENST00000315285.7:c.1214del	ENSP00000320885.3:p.Asn405IlefsTer2
ENST00000345662.5:c.1118del	ENSP00000340817.1:p.Asn373IlefsTer2
ENST00000615843.4:c.1214del	ENSP00000480893.1:p.Asn405IlefsTer2
ENST00000621856.1:c.956del	ENSP00000482496.1:p.Asn319IlefsTer2
NM_014946.3:c.1214del , LRG_714t1:c.1214del	NP_055761.2:p.Asn405IlefsTer2
NM_199436.1:c.1118del	NP_955468.1:p.Asn373IlefsTer2
XM_005264516.3:c.1211del	XP_005264573.1:p.Asn404IlefsTer2
XM_011533067.1:c.1214del	XP_011531369.1:p.Asn405IlefsTer2
NM_001363823.1:c.1211del	NP_001350752.1:p.Asn404IlefsTer2
NM_001363875.1:c.1115del	NP_001350804.1:p.Asn372IlefsTer2
XM_005264516.5:c.1211del	XP_005264573.1:p.Asn404IlefsTer2
XM_011533067.2:c.1214del	XP_011531369.1:p.Asn405IlefsTer2
XM_017004778.2:c.1118del	XP_016860267.1:p.Asn373IlefsTer2
NM_001363823.2:c.1211del	NP_001350752.1:p.Asn404IlefsTer2
NM_001363875.2:c.1115del	NP_001350804.1:p.Asn372IlefsTer2
NM_001377959.1:c.1118del	NP_001364888.1:p.Asn373IlefsTer2
NM_014946.4:c.1214del MANE Select	NP_055761.2:p.Asn405IlefsTer2
NM_199436.2:c.1118del	NP_955468.1:p.Asn373IlefsTer2