Canonical Allele Identifier: CA2839123430

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334372dup , CM000675.2:g.23334372dup	GRCh38
NC_000013.10:g.23908511dup , CM000675.1:g.23908511dup	GRCh37
NC_000013.9:g.22806511dup	NCBI36
NG_012342.1:g.104334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19416dup	ENSP00000508399.1:n.2185+19416dup
ENST00000682944.1:c.9534dup	ENSP00000507173.1:p.Arg3179ThrfsTer10
ENST00000683210.1:c.2185+19416dup	ENSP00000506739.1:n.2185+19416dup
ENST00000683270.1:c.6445+3053dup	ENSP00000507624.1:n.6445+3053dup
ENST00000683367.1:c.2177-4885dup	ENSP00000507780.1:n.2177-4885dup
ENST00000683489.1:c.2292-4417dup	ENSP00000508403.1:n.2292-4417dup
ENST00000683680.1:c.2319-4417dup	ENSP00000507223.1:n.2319-4417dup
ENST00000684163.1:c.2204-4885dup	ENSP00000508262.1:n.2204-4885dup
ENST00000684196.1:n.4543-4885dup
ENST00000684325.1:c.2186-12695dup	ENSP00000508121.1:n.2186-12695dup
ENST00000684385.1:c.2221-4885dup	ENSP00000507855.1:n.2221-4885dup
ENST00000684497.1:c.2186-11725dup	ENSP00000507057.1:n.2186-11725dup
ENST00000382292.9:c.9507dup MANE Select	ENSP00000371729.3:p.Arg3170ThrfsTer10
ENST00000423156.2:c.2186-4885dup	ENSP00000390925.2:n.2186-4885dup
ENST00000455470.6:c.2432-4885dup	ENSP00000406565.2:n.2432-4885dup
ENST00000382292.7:c.9507dup	ENSP00000371729.3:p.Arg3170ThrfsTer10
ENST00000382298.7:c.9507dup	ENSP00000371735.3:p.Arg3170ThrfsTer10
ENST00000402364.1:c.7257dup	ENSP00000385844.1:p.Arg2420ThrfsTer10
ENST00000423156.1:c.1058-4885dup	ENSP00000390925.1:n.1058-4885dup
ENST00000455470.5:c.2130-4885dup
NM_001278055.1:c.9066dup	NP_001264984.1:p.Arg3023ThrfsTer10
NM_014363.5:c.9507dup	NP_055178.3:p.Arg3170ThrfsTer10
XM_005266338.1:c.9534dup	XP_005266395.1:p.Arg3179ThrfsTer10
XM_011535038.1:c.9558dup	XP_011533340.1:p.Arg3187ThrfsTer10
XM_011535039.1:c.9525dup	XP_011533341.1:p.Arg3176ThrfsTer10
XM_005266338.2:c.9534dup	XP_005266395.1:p.Arg3179ThrfsTer10
XM_011535039.2:c.9525dup	XP_011533341.1:p.Arg3176ThrfsTer10
XM_017020539.1:c.9498dup	XP_016876028.1:p.Arg3167ThrfsTer10
XM_024449337.1:c.9534dup	XP_024305105.1:p.Arg3179ThrfsTer10
NM_014363.6:c.9507dup MANE Select	NP_055178.3:p.Arg3170ThrfsTer10
NM_001278055.2:c.9066dup	NP_001264984.1:p.Arg3023ThrfsTer10