Canonical Allele Identifier: CA2575369467

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336523dup , CM000675.2:g.23336523dup	GRCh38
NC_000013.10:g.23910662dup , CM000675.1:g.23910662dup	GRCh37
NC_000013.9:g.22808662dup	NCBI36
NG_012342.1:g.102180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17262dup	ENSP00000508399.1:n.2185+17262dup
ENST00000682944.1:c.7380dup	ENSP00000507173.1:p.Leu2461IlefsTer6
ENST00000683210.1:c.2185+17262dup	ENSP00000506739.1:n.2185+17262dup
ENST00000683270.1:c.6445+899dup	ENSP00000507624.1:n.6445+899dup
ENST00000683367.1:c.2177-7039dup	ENSP00000507780.1:n.2177-7039dup
ENST00000683489.1:c.2291+5062dup	ENSP00000508403.1:n.2291+5062dup
ENST00000683680.1:c.2318+5062dup	ENSP00000507223.1:n.2318+5062dup
ENST00000684163.1:c.2204-7039dup	ENSP00000508262.1:n.2204-7039dup
ENST00000684196.1:n.4543-7039dup
ENST00000684325.1:c.2186-14849dup	ENSP00000508121.1:n.2186-14849dup
ENST00000684385.1:c.2221-7039dup	ENSP00000507855.1:n.2221-7039dup
ENST00000684497.1:c.2186-13879dup	ENSP00000507057.1:n.2186-13879dup
ENST00000382292.9:c.7353dup MANE Select	ENSP00000371729.3:p.Leu2452IlefsTer6
ENST00000423156.2:c.2186-7039dup	ENSP00000390925.2:n.2186-7039dup
ENST00000455470.6:c.2431+4922dup	ENSP00000406565.2:n.2431+4922dup
ENST00000382292.7:c.7353dup	ENSP00000371729.3:p.Leu2452IlefsTer6
ENST00000382298.7:c.7353dup	ENSP00000371735.3:p.Leu2452IlefsTer6
ENST00000402364.1:c.5103dup	ENSP00000385844.1:p.Leu1702IlefsTer6
ENST00000423156.1:c.1058-7039dup	ENSP00000390925.1:n.1058-7039dup
ENST00000455470.5:c.2129+4922dup
NM_001278055.1:c.6912dup	NP_001264984.1:p.Leu2305IlefsTer6
NM_014363.5:c.7353dup	NP_055178.3:p.Leu2452IlefsTer6
XM_005266338.1:c.7380dup	XP_005266395.1:p.Leu2461IlefsTer6
XM_011535038.1:c.7404dup	XP_011533340.1:p.Leu2469IlefsTer6
XM_011535039.1:c.7371dup	XP_011533341.1:p.Leu2458IlefsTer6
XM_005266338.2:c.7380dup	XP_005266395.1:p.Leu2461IlefsTer6
XM_011535039.2:c.7371dup	XP_011533341.1:p.Leu2458IlefsTer6
XM_017020539.1:c.7344dup	XP_016876028.1:p.Leu2449IlefsTer6
XM_024449337.1:c.7380dup	XP_024305105.1:p.Leu2461IlefsTer6
NM_014363.6:c.7353dup MANE Select	NP_055178.3:p.Leu2452IlefsTer6
NM_001278055.2:c.6912dup	NP_001264984.1:p.Leu2305IlefsTer6