Canonical Allele Identifier: CA2695217748

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339731dup , CM000675.2:g.23339731dup	GRCh38
NC_000013.10:g.23913870dup , CM000675.1:g.23913870dup	GRCh37
NC_000013.9:g.22811870dup	NCBI36
NG_012342.1:g.98972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14054dup	ENSP00000508399.1:n.2185+14054dup
ENST00000682944.1:c.4172dup	ENSP00000507173.1:p.His1391GlnfsTer3
ENST00000683210.1:c.2185+14054dup	ENSP00000506739.1:n.2185+14054dup
ENST00000683270.1:c.4136dup	ENSP00000507624.1:p.His1379GlnfsTer3
ENST00000683367.1:c.2177-10247dup	ENSP00000507780.1:n.2177-10247dup
ENST00000683489.1:c.2291+1854dup	ENSP00000508403.1:n.2291+1854dup
ENST00000683680.1:c.2318+1854dup	ENSP00000507223.1:n.2318+1854dup
ENST00000684163.1:c.2203+7080dup	ENSP00000508262.1:n.2203+7080dup
ENST00000684196.1:n.4543-10247dup
ENST00000684325.1:c.2185+14054dup	ENSP00000508121.1:n.2185+14054dup
ENST00000684385.1:c.2220+7080dup	ENSP00000507855.1:n.2220+7080dup
ENST00000684497.1:c.2185+14054dup	ENSP00000507057.1:n.2185+14054dup
ENST00000382292.9:c.4145dup MANE Select	ENSP00000371729.3:p.His1382GlnfsTer3
ENST00000423156.2:c.2186-10247dup	ENSP00000390925.2:n.2186-10247dup
ENST00000455470.6:c.2431+1714dup	ENSP00000406565.2:n.2431+1714dup
ENST00000382292.7:c.4145dup	ENSP00000371729.3:p.His1382GlnfsTer3
ENST00000382298.7:c.4145dup	ENSP00000371735.3:p.His1382GlnfsTer3
ENST00000402364.1:c.1895dup	ENSP00000385844.1:p.His632GlnfsTer3
ENST00000423156.1:c.1058-10247dup	ENSP00000390925.1:n.1058-10247dup
ENST00000455470.5:c.2129+1714dup
NM_001278055.1:c.3704dup	NP_001264984.1:p.His1235GlnfsTer3
NM_014363.5:c.4145dup	NP_055178.3:p.His1382GlnfsTer3
XM_005266338.1:c.4172dup	XP_005266395.1:p.His1391GlnfsTer3
XM_011535038.1:c.4196dup	XP_011533340.1:p.His1399GlnfsTer3
XM_011535039.1:c.4163dup	XP_011533341.1:p.His1388GlnfsTer3
XM_005266338.2:c.4172dup	XP_005266395.1:p.His1391GlnfsTer3
XM_011535039.2:c.4163dup	XP_011533341.1:p.His1388GlnfsTer3
XM_017020539.1:c.4136dup	XP_016876028.1:p.His1379GlnfsTer3
XM_024449337.1:c.4172dup	XP_024305105.1:p.His1391GlnfsTer3
NM_014363.6:c.4145dup MANE Select	NP_055178.3:p.His1382GlnfsTer3
NM_001278055.2:c.3704dup	NP_001264984.1:p.His1235GlnfsTer3