Canonical Allele Identifier: CA2078642238

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340331_23340333delinsGCA , CM000675.2:g.23340331_23340333delinsGCA	GRCh38
NC_000013.10:g.23914470_23914472delinsGCA , CM000675.1:g.23914470_23914472delinsGCA	GRCh37
NC_000013.9:g.22812470_22812472delinsGCA	NCBI36
NG_012342.1:g.98370_98372delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13452_2185+13454delinsTGC	ENSP00000508399.1:n.2185+13452_2185+13454delinsTGC
ENST00000682944.1:c.3570_3572delinsTGC	ENSP00000507173.1:p.Cys1190=
ENST00000683210.1:c.2185+13452_2185+13454delinsTGC	ENSP00000506739.1:n.2185+13452_2185+13454delinsTGC
ENST00000683270.1:c.3534_3536delinsTGC	ENSP00000507624.1:p.Cys1178=
ENST00000683367.1:c.2177-10849_2177-10847delinsTGC	ENSP00000507780.1:n.2177-10849_2177-10847delinsTGC
ENST00000683489.1:c.2291+1252_2291+1254delinsTGC	ENSP00000508403.1:n.2291+1252_2291+1254delinsTGC
ENST00000683680.1:c.2318+1252_2318+1254delinsTGC	ENSP00000507223.1:n.2318+1252_2318+1254delinsTGC
ENST00000684163.1:c.2203+6478_2203+6480delinsTGC	ENSP00000508262.1:n.2203+6478_2203+6480delinsTGC
ENST00000684196.1:n.4543-10849_4543-10847delinsTGC
ENST00000684325.1:c.2185+13452_2185+13454delinsTGC	ENSP00000508121.1:n.2185+13452_2185+13454delinsTGC
ENST00000684385.1:c.2220+6478_2220+6480delinsTGC	ENSP00000507855.1:n.2220+6478_2220+6480delinsTGC
ENST00000684497.1:c.2185+13452_2185+13454delinsTGC	ENSP00000507057.1:n.2185+13452_2185+13454delinsTGC
ENST00000382292.9:c.3543_3545delinsTGC MANE Select	ENSP00000371729.3:p.Cys1181=
ENST00000423156.2:c.2186-10849_2186-10847delinsTGC	ENSP00000390925.2:n.2186-10849_2186-10847delinsTGC
ENST00000455470.6:c.2431+1112_2431+1114delinsTGC	ENSP00000406565.2:n.2431+1112_2431+1114delinsTGC
ENST00000382292.7:c.3543_3545delinsTGC	ENSP00000371729.3:p.Cys1181=
ENST00000382298.7:c.3543_3545delinsTGC	ENSP00000371735.3:p.Cys1181=
ENST00000402364.1:c.1293_1295delinsTGC	ENSP00000385844.1:p.Cys431=
ENST00000423156.1:c.1058-10849_1058-10847delinsTGC	ENSP00000390925.1:n.1058-10849_1058-10847delinsTGC
ENST00000455470.5:c.2129+1112_2129+1114delinsTGC
NM_001278055.1:c.3102_3104delinsTGC	NP_001264984.1:p.Cys1034=
NM_014363.5:c.3543_3545delinsTGC	NP_055178.3:p.Cys1181=
XM_005266338.1:c.3570_3572delinsTGC	XP_005266395.1:p.Cys1190=
XM_011535038.1:c.3594_3596delinsTGC	XP_011533340.1:p.Cys1198=
XM_011535039.1:c.3561_3563delinsTGC	XP_011533341.1:p.Cys1187=
XM_005266338.2:c.3570_3572delinsTGC	XP_005266395.1:p.Cys1190=
XM_011535039.2:c.3561_3563delinsTGC	XP_011533341.1:p.Cys1187=
XM_017020539.1:c.3534_3536delinsTGC	XP_016876028.1:p.Cys1178=
XM_024449337.1:c.3570_3572delinsTGC	XP_024305105.1:p.Cys1190=
NM_014363.6:c.3543_3545delinsTGC MANE Select	NP_055178.3:p.Cys1181=
NM_001278055.2:c.3102_3104delinsTGC	NP_001264984.1:p.Cys1034=