Canonical Allele Identifier: CA2078633035

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333335_23333338delinsTTAA , CM000675.2:g.23333335_23333338delinsTTAA	GRCh38
NC_000013.10:g.23907474_23907477delinsTTAA , CM000675.1:g.23907474_23907477delinsTTAA	GRCh37
NC_000013.9:g.22805474_22805477delinsTTAA	NCBI36
NG_012342.1:g.105365_105368delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20447_2185+20450delinsTTAA	ENSP00000508399.1:n.2185+20447_2185+20450delinsTTAA
ENST00000682944.1:c.10565_10568delinsTTAA	ENSP00000507173.1:p.Ile3522=
ENST00000683210.1:c.2185+20447_2185+20450delinsTTAA	ENSP00000506739.1:n.2185+20447_2185+20450delinsTTAA
ENST00000683270.1:c.6446-3854_6446-3851delinsTTAA	ENSP00000507624.1:n.6446-3854_6446-3851delinsTTAA
ENST00000683367.1:c.2177-3854_2177-3851delinsTTAA	ENSP00000507780.1:n.2177-3854_2177-3851delinsTTAA
ENST00000683489.1:c.2292-3386_2292-3383delinsTTAA	ENSP00000508403.1:n.2292-3386_2292-3383delinsTTAA
ENST00000683680.1:c.2319-3386_2319-3383delinsTTAA	ENSP00000507223.1:n.2319-3386_2319-3383delinsTTAA
ENST00000684163.1:c.2204-3854_2204-3851delinsTTAA	ENSP00000508262.1:n.2204-3854_2204-3851delinsTTAA
ENST00000684196.1:n.4543-3854_4543-3851delinsTTAA
ENST00000684325.1:c.2186-11664_2186-11661delinsTTAA	ENSP00000508121.1:n.2186-11664_2186-11661delinsTTAA
ENST00000684385.1:c.2221-3854_2221-3851delinsTTAA	ENSP00000507855.1:n.2221-3854_2221-3851delinsTTAA
ENST00000684497.1:c.2186-10694_2186-10691delinsTTAA	ENSP00000507057.1:n.2186-10694_2186-10691delinsTTAA
ENST00000382292.9:c.10538_10541delinsTTAA MANE Select	ENSP00000371729.3:p.Ile3513=
ENST00000423156.2:c.2186-3854_2186-3851delinsTTAA	ENSP00000390925.2:n.2186-3854_2186-3851delinsTTAA
ENST00000455470.6:c.2432-3854_2432-3851delinsTTAA	ENSP00000406565.2:n.2432-3854_2432-3851delinsTTAA
ENST00000382292.7:c.10538_10541delinsTTAA	ENSP00000371729.3:p.Ile3513=
ENST00000382298.7:c.10538_10541delinsTTAA	ENSP00000371735.3:p.Ile3513=
ENST00000402364.1:c.8288_8291delinsTTAA	ENSP00000385844.1:p.Ile2763=
ENST00000423156.1:c.1058-3854_1058-3851delinsTTAA	ENSP00000390925.1:n.1058-3854_1058-3851delinsTTAA
ENST00000455470.5:c.2130-3854_2130-3851delinsTTAA
NM_001278055.1:c.10097_10100delinsTTAA	NP_001264984.1:p.Ile3366=
NM_014363.5:c.10538_10541delinsTTAA	NP_055178.3:p.Ile3513=
XM_005266338.1:c.10565_10568delinsTTAA	XP_005266395.1:p.Ile3522=
XM_011535038.1:c.10589_10592delinsTTAA	XP_011533340.1:p.Ile3530=
XM_011535039.1:c.10556_10559delinsTTAA	XP_011533341.1:p.Ile3519=
XM_005266338.2:c.10565_10568delinsTTAA	XP_005266395.1:p.Ile3522=
XM_011535039.2:c.10556_10559delinsTTAA	XP_011533341.1:p.Ile3519=
XM_017020539.1:c.10529_10532delinsTTAA	XP_016876028.1:p.Ile3510=
XM_024449337.1:c.10565_10568delinsTTAA	XP_024305105.1:p.Ile3522=
NM_014363.6:c.10538_10541delinsTTAA MANE Select	NP_055178.3:p.Ile3513=
NM_001278055.2:c.10097_10100delinsTTAA	NP_001264984.1:p.Ile3366=