Canonical Allele Identifier: CA2695217811

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336156dup , CM000675.2:g.23336156dup	GRCh38
NC_000013.10:g.23910295dup , CM000675.1:g.23910295dup	GRCh37
NC_000013.9:g.22808295dup	NCBI36
NG_012342.1:g.102547dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17629dup	ENSP00000508399.1:n.2185+17629dup
ENST00000682944.1:c.7747dup	ENSP00000507173.1:p.Arg2583LysfsTer4
ENST00000683210.1:c.2185+17629dup	ENSP00000506739.1:n.2185+17629dup
ENST00000683270.1:c.6445+1266dup	ENSP00000507624.1:n.6445+1266dup
ENST00000683367.1:c.2177-6672dup	ENSP00000507780.1:n.2177-6672dup
ENST00000683489.1:c.2291+5429dup	ENSP00000508403.1:n.2291+5429dup
ENST00000683680.1:c.2318+5429dup	ENSP00000507223.1:n.2318+5429dup
ENST00000684163.1:c.2204-6672dup	ENSP00000508262.1:n.2204-6672dup
ENST00000684196.1:n.4543-6672dup
ENST00000684325.1:c.2186-14482dup	ENSP00000508121.1:n.2186-14482dup
ENST00000684385.1:c.2221-6672dup	ENSP00000507855.1:n.2221-6672dup
ENST00000684497.1:c.2186-13512dup	ENSP00000507057.1:n.2186-13512dup
ENST00000382292.9:c.7720dup MANE Select	ENSP00000371729.3:p.Arg2574LysfsTer4
ENST00000423156.2:c.2186-6672dup	ENSP00000390925.2:n.2186-6672dup
ENST00000455470.6:c.2431+5289dup	ENSP00000406565.2:n.2431+5289dup
ENST00000382292.7:c.7720dup	ENSP00000371729.3:p.Arg2574LysfsTer4
ENST00000382298.7:c.7720dup	ENSP00000371735.3:p.Arg2574LysfsTer4
ENST00000402364.1:c.5470dup	ENSP00000385844.1:p.Arg1824LysfsTer4
ENST00000423156.1:c.1058-6672dup	ENSP00000390925.1:n.1058-6672dup
ENST00000455470.5:c.2129+5289dup
NM_001278055.1:c.7279dup	NP_001264984.1:p.Arg2427LysfsTer4
NM_014363.5:c.7720dup	NP_055178.3:p.Arg2574LysfsTer4
XM_005266338.1:c.7747dup	XP_005266395.1:p.Arg2583LysfsTer4
XM_011535038.1:c.7771dup	XP_011533340.1:p.Arg2591LysfsTer4
XM_011535039.1:c.7738dup	XP_011533341.1:p.Arg2580LysfsTer4
XM_005266338.2:c.7747dup	XP_005266395.1:p.Arg2583LysfsTer4
XM_011535039.2:c.7738dup	XP_011533341.1:p.Arg2580LysfsTer4
XM_017020539.1:c.7711dup	XP_016876028.1:p.Arg2571LysfsTer4
XM_024449337.1:c.7747dup	XP_024305105.1:p.Arg2583LysfsTer4
NM_014363.6:c.7720dup MANE Select	NP_055178.3:p.Arg2574LysfsTer4
NM_001278055.2:c.7279dup	NP_001264984.1:p.Arg2427LysfsTer4