Canonical Allele Identifier: CA2078642330

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340386_23340387delinsGC , CM000675.2:g.23340386_23340387delinsGC	GRCh38
NC_000013.10:g.23914525_23914526delinsGC , CM000675.1:g.23914525_23914526delinsGC	GRCh37
NC_000013.9:g.22812525_22812526delinsGC	NCBI36
NG_012342.1:g.98316_98317delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13398_2185+13399delinsGC	ENSP00000508399.1:n.2185+13398_2185+13399delinsGC
ENST00000682944.1:c.3516_3517delinsGC	ENSP00000507173.1:p.Arg1172=
ENST00000683210.1:c.2185+13398_2185+13399delinsGC	ENSP00000506739.1:n.2185+13398_2185+13399delinsGC
ENST00000683270.1:c.3480_3481delinsGC	ENSP00000507624.1:p.Arg1160=
ENST00000683367.1:c.2177-10903_2177-10902delinsGC	ENSP00000507780.1:n.2177-10903_2177-10902delinsGC
ENST00000683489.1:c.2291+1198_2291+1199delinsGC	ENSP00000508403.1:n.2291+1198_2291+1199delinsGC
ENST00000683680.1:c.2318+1198_2318+1199delinsGC	ENSP00000507223.1:n.2318+1198_2318+1199delinsGC
ENST00000684163.1:c.2203+6424_2203+6425delinsGC	ENSP00000508262.1:n.2203+6424_2203+6425delinsGC
ENST00000684196.1:n.4543-10903_4543-10902delinsGC
ENST00000684325.1:c.2185+13398_2185+13399delinsGC	ENSP00000508121.1:n.2185+13398_2185+13399delinsGC
ENST00000684385.1:c.2220+6424_2220+6425delinsGC	ENSP00000507855.1:n.2220+6424_2220+6425delinsGC
ENST00000684497.1:c.2185+13398_2185+13399delinsGC	ENSP00000507057.1:n.2185+13398_2185+13399delinsGC
ENST00000382292.9:c.3489_3490delinsGC MANE Select	ENSP00000371729.3:p.Arg1163=
ENST00000423156.2:c.2186-10903_2186-10902delinsGC	ENSP00000390925.2:n.2186-10903_2186-10902delinsGC
ENST00000455470.6:c.2431+1058_2431+1059delinsGC	ENSP00000406565.2:n.2431+1058_2431+1059delinsGC
ENST00000382292.7:c.3489_3490delinsGC	ENSP00000371729.3:p.Arg1163=
ENST00000382298.7:c.3489_3490delinsGC	ENSP00000371735.3:p.Arg1163=
ENST00000402364.1:c.1239_1240delinsGC	ENSP00000385844.1:p.Arg413=
ENST00000423156.1:c.1058-10903_1058-10902delinsGC	ENSP00000390925.1:n.1058-10903_1058-10902delinsGC
ENST00000455470.5:c.2129+1058_2129+1059delinsGC
NM_001278055.1:c.3048_3049delinsGC	NP_001264984.1:p.Arg1016=
NM_014363.5:c.3489_3490delinsGC	NP_055178.3:p.Arg1163=
XM_005266338.1:c.3516_3517delinsGC	XP_005266395.1:p.Arg1172=
XM_011535038.1:c.3540_3541delinsGC	XP_011533340.1:p.Arg1180=
XM_011535039.1:c.3507_3508delinsGC	XP_011533341.1:p.Arg1169=
XM_005266338.2:c.3516_3517delinsGC	XP_005266395.1:p.Arg1172=
XM_011535039.2:c.3507_3508delinsGC	XP_011533341.1:p.Arg1169=
XM_017020539.1:c.3480_3481delinsGC	XP_016876028.1:p.Arg1160=
XM_024449337.1:c.3516_3517delinsGC	XP_024305105.1:p.Arg1172=
NM_014363.6:c.3489_3490delinsGC MANE Select	NP_055178.3:p.Arg1163=
NM_001278055.2:c.3048_3049delinsGC	NP_001264984.1:p.Arg1016=