Canonical Allele Identifier: CA912980146

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23914381_23914382del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340242_23340243del , CM000675.2:g.23340242_23340243del	GRCh38
NC_000013.10:g.23914381_23914382del , CM000675.1:g.23914381_23914382del	GRCh37
NC_000013.9:g.22812381_22812382del	NCBI36
NG_012342.1:g.98460_98461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13542_2185+13543del	ENSP00000508399.1:n.2185+13542_2185+13543del
ENST00000682944.1:c.3660_3661del	ENSP00000507173.1:p.Lys1220AsnfsTer9
ENST00000683210.1:c.2185+13542_2185+13543del	ENSP00000506739.1:n.2185+13542_2185+13543del
ENST00000683270.1:c.3624_3625del	ENSP00000507624.1:p.Lys1208AsnfsTer9
ENST00000683367.1:c.2177-10759_2177-10758del	ENSP00000507780.1:n.2177-10759_2177-10758del
ENST00000683489.1:c.2291+1342_2291+1343del	ENSP00000508403.1:n.2291+1342_2291+1343del
ENST00000683680.1:c.2318+1342_2318+1343del	ENSP00000507223.1:n.2318+1342_2318+1343del
ENST00000684163.1:c.2203+6568_2203+6569del	ENSP00000508262.1:n.2203+6568_2203+6569del
ENST00000684196.1:n.4543-10759_4543-10758del
ENST00000684325.1:c.2185+13542_2185+13543del	ENSP00000508121.1:n.2185+13542_2185+13543del
ENST00000684385.1:c.2220+6568_2220+6569del	ENSP00000507855.1:n.2220+6568_2220+6569del
ENST00000684497.1:c.2185+13542_2185+13543del	ENSP00000507057.1:n.2185+13542_2185+13543del
ENST00000382292.9:c.3633_3634del MANE Select	ENSP00000371729.3:p.Lys1211AsnfsTer9
ENST00000423156.2:c.2186-10759_2186-10758del	ENSP00000390925.2:n.2186-10759_2186-10758del
ENST00000455470.6:c.2431+1202_2431+1203del	ENSP00000406565.2:n.2431+1202_2431+1203del
ENST00000382292.7:c.3633_3634del	ENSP00000371729.3:p.Lys1211AsnfsTer9
ENST00000382298.7:c.3633_3634del	ENSP00000371735.3:p.Lys1211AsnfsTer9
ENST00000402364.1:c.1383_1384del	ENSP00000385844.1:p.Lys461AsnfsTer9
ENST00000423156.1:c.1058-10759_1058-10758del	ENSP00000390925.1:n.1058-10759_1058-10758del
ENST00000455470.5:c.2129+1202_2129+1203del
NM_001278055.1:c.3192_3193del	NP_001264984.1:p.Lys1064AsnfsTer9
NM_014363.5:c.3633_3634del	NP_055178.3:p.Lys1211AsnfsTer9
XM_005266338.1:c.3660_3661del	XP_005266395.1:p.Lys1220AsnfsTer9
XM_011535038.1:c.3684_3685del	XP_011533340.1:p.Lys1228AsnfsTer9
XM_011535039.1:c.3651_3652del	XP_011533341.1:p.Lys1217AsnfsTer9
XM_005266338.2:c.3660_3661del	XP_005266395.1:p.Lys1220AsnfsTer9
XM_011535039.2:c.3651_3652del	XP_011533341.1:p.Lys1217AsnfsTer9
XM_017020539.1:c.3624_3625del	XP_016876028.1:p.Lys1208AsnfsTer9
XM_024449337.1:c.3660_3661del	XP_024305105.1:p.Lys1220AsnfsTer9
NM_014363.6:c.3633_3634del MANE Select	NP_055178.3:p.Lys1211AsnfsTer9
NM_001278055.2:c.3192_3193del	NP_001264984.1:p.Lys1064AsnfsTer9