Canonical Allele Identifier: CA2695217754

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340460_23340461dup , CM000675.2:g.23340460_23340461dup	GRCh38
NC_000013.10:g.23914599_23914600dup , CM000675.1:g.23914599_23914600dup	GRCh37
NC_000013.9:g.22812599_22812600dup	NCBI36
NG_012342.1:g.98247_98248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13329_2185+13330dup	ENSP00000508399.1:n.2185+13329_2185+13330dup
ENST00000682944.1:c.3447_3448dup	ENSP00000507173.1:p.Leu1150HisfsTer10
ENST00000683210.1:c.2185+13329_2185+13330dup	ENSP00000506739.1:n.2185+13329_2185+13330dup
ENST00000683270.1:c.3411_3412dup	ENSP00000507624.1:p.Leu1138HisfsTer10
ENST00000683367.1:c.2177-10972_2177-10971dup	ENSP00000507780.1:n.2177-10972_2177-10971dup
ENST00000683489.1:c.2291+1129_2291+1130dup	ENSP00000508403.1:n.2291+1129_2291+1130dup
ENST00000683680.1:c.2318+1129_2318+1130dup	ENSP00000507223.1:n.2318+1129_2318+1130dup
ENST00000684163.1:c.2203+6355_2203+6356dup	ENSP00000508262.1:n.2203+6355_2203+6356dup
ENST00000684196.1:n.4543-10972_4543-10971dup
ENST00000684325.1:c.2185+13329_2185+13330dup	ENSP00000508121.1:n.2185+13329_2185+13330dup
ENST00000684385.1:c.2220+6355_2220+6356dup	ENSP00000507855.1:n.2220+6355_2220+6356dup
ENST00000684497.1:c.2185+13329_2185+13330dup	ENSP00000507057.1:n.2185+13329_2185+13330dup
ENST00000382292.9:c.3420_3421dup MANE Select	ENSP00000371729.3:p.Leu1141HisfsTer10
ENST00000423156.2:c.2186-10972_2186-10971dup	ENSP00000390925.2:n.2186-10972_2186-10971dup
ENST00000455470.6:c.2431+989_2431+990dup	ENSP00000406565.2:n.2431+989_2431+990dup
ENST00000382292.7:c.3420_3421dup	ENSP00000371729.3:p.Leu1141HisfsTer10
ENST00000382298.7:c.3420_3421dup	ENSP00000371735.3:p.Leu1141HisfsTer10
ENST00000402364.1:c.1170_1171dup	ENSP00000385844.1:p.Leu391HisfsTer10
ENST00000423156.1:c.1058-10972_1058-10971dup	ENSP00000390925.1:n.1058-10972_1058-10971dup
ENST00000455470.5:c.2129+989_2129+990dup
NM_001278055.1:c.2979_2980dup	NP_001264984.1:p.Leu994HisfsTer10
NM_014363.5:c.3420_3421dup	NP_055178.3:p.Leu1141HisfsTer10
XM_005266338.1:c.3447_3448dup	XP_005266395.1:p.Leu1150HisfsTer10
XM_011535038.1:c.3471_3472dup	XP_011533340.1:p.Leu1158HisfsTer10
XM_011535039.1:c.3438_3439dup	XP_011533341.1:p.Leu1147HisfsTer10
XM_005266338.2:c.3447_3448dup	XP_005266395.1:p.Leu1150HisfsTer10
XM_011535039.2:c.3438_3439dup	XP_011533341.1:p.Leu1147HisfsTer10
XM_017020539.1:c.3411_3412dup	XP_016876028.1:p.Leu1138HisfsTer10
XM_024449337.1:c.3447_3448dup	XP_024305105.1:p.Leu1150HisfsTer10
NM_014363.6:c.3420_3421dup MANE Select	NP_055178.3:p.Leu1141HisfsTer10
NM_001278055.2:c.2979_2980dup	NP_001264984.1:p.Leu994HisfsTer10