Canonical Allele Identifier: CA2544377453

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339829_23339830insACCATA , CM000675.2:g.23339829_23339830insACCATA	GRCh38
NC_000013.10:g.23913968_23913969insACCATA , CM000675.1:g.23913968_23913969insACCATA	GRCh37
NC_000013.9:g.22811968_22811969insACCATA	NCBI36
NG_012342.1:g.98873_98874insTATGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13955_2185+13956insTATGGT	ENSP00000508399.1:n.2185+13955_2185+13956insTATGGT
ENST00000682944.1:c.4073_4074insTATGGT	ENSP00000507173.1:p.Glu1358delinsAspMetVal
ENST00000683210.1:c.2185+13955_2185+13956insTATGGT	ENSP00000506739.1:n.2185+13955_2185+13956insTATGGT
ENST00000683270.1:c.4037_4038insTATGGT	ENSP00000507624.1:p.Glu1346delinsAspMetVal
ENST00000683367.1:c.2177-10346_2177-10345insTATGGT	ENSP00000507780.1:n.2177-10346_2177-10345insTATGGT
ENST00000683489.1:c.2291+1755_2291+1756insTATGGT	ENSP00000508403.1:n.2291+1755_2291+1756insTATGGT
ENST00000683680.1:c.2318+1755_2318+1756insTATGGT	ENSP00000507223.1:n.2318+1755_2318+1756insTATGGT
ENST00000684163.1:c.2203+6981_2203+6982insTATGGT	ENSP00000508262.1:n.2203+6981_2203+6982insTATGGT
ENST00000684196.1:n.4543-10346_4543-10345insTATGGT
ENST00000684325.1:c.2185+13955_2185+13956insTATGGT	ENSP00000508121.1:n.2185+13955_2185+13956insTATGGT
ENST00000684385.1:c.2220+6981_2220+6982insTATGGT	ENSP00000507855.1:n.2220+6981_2220+6982insTATGGT
ENST00000684497.1:c.2185+13955_2185+13956insTATGGT	ENSP00000507057.1:n.2185+13955_2185+13956insTATGGT
ENST00000382292.9:c.4046_4047insTATGGT MANE Select	ENSP00000371729.3:p.Glu1349delinsAspMetVal
ENST00000423156.2:c.2186-10346_2186-10345insTATGGT	ENSP00000390925.2:n.2186-10346_2186-10345insTATGGT
ENST00000455470.6:c.2431+1615_2431+1616insTATGGT	ENSP00000406565.2:n.2431+1615_2431+1616insTATGGT
ENST00000382292.7:c.4046_4047insTATGGT	ENSP00000371729.3:p.Glu1349delinsAspMetVal
ENST00000382298.7:c.4046_4047insTATGGT	ENSP00000371735.3:p.Glu1349delinsAspMetVal
ENST00000402364.1:c.1796_1797insTATGGT	ENSP00000385844.1:p.Glu599delinsAspMetVal
ENST00000423156.1:c.1058-10346_1058-10345insTATGGT	ENSP00000390925.1:n.1058-10346_1058-10345insTATGGT
ENST00000455470.5:c.2129+1615_2129+1616insTATGGT
NM_001278055.1:c.3605_3606insTATGGT	NP_001264984.1:p.Glu1202delinsAspMetVal
NM_014363.5:c.4046_4047insTATGGT	NP_055178.3:p.Glu1349delinsAspMetVal
XM_005266338.1:c.4073_4074insTATGGT	XP_005266395.1:p.Glu1358delinsAspMetVal
XM_011535038.1:c.4097_4098insTATGGT	XP_011533340.1:p.Glu1366delinsAspMetVal
XM_011535039.1:c.4064_4065insTATGGT	XP_011533341.1:p.Glu1355delinsAspMetVal
XM_005266338.2:c.4073_4074insTATGGT	XP_005266395.1:p.Glu1358delinsAspMetVal
XM_011535039.2:c.4064_4065insTATGGT	XP_011533341.1:p.Glu1355delinsAspMetVal
XM_017020539.1:c.4037_4038insTATGGT	XP_016876028.1:p.Glu1346delinsAspMetVal
XM_024449337.1:c.4073_4074insTATGGT	XP_024305105.1:p.Glu1358delinsAspMetVal
NM_014363.6:c.4046_4047insTATGGT MANE Select	NP_055178.3:p.Glu1349delinsAspMetVal
NM_001278055.2:c.3605_3606insTATGGT	NP_001264984.1:p.Glu1202delinsAspMetVal