Canonical Allele Identifier: CA2573149137

Gene: SACS

Linked Data

• ClinVar Variation Id: 5521
• ClinVar RCV Id: RCV000005856
• dbSNP Id: rs2137724246

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355423_23355432del , CM000675.2:g.23355423_23355432del	GRCh38
NC_000013.10:g.23929562_23929571del , CM000675.1:g.23929562_23929571del	GRCh37
NC_000013.9:g.22827562_22827571del	NCBI36
NG_012342.1:g.83276_83285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1185_1194del	ENSP00000508399.1:p.Cys395TrpfsTer13
ENST00000682944.1:c.1185_1194del	ENSP00000507173.1:p.Cys395TrpfsTer13
ENST00000683154.1:n.1323_1332del
ENST00000683210.1:c.1185_1194del	ENSP00000506739.1:p.Cys395TrpfsTer13
ENST00000683270.1:c.1176_1185del	ENSP00000507624.1:p.Cys392TrpfsTer13
ENST00000683367.1:c.1176_1185del	ENSP00000507780.1:p.Cys392TrpfsTer13
ENST00000683489.1:c.1185_1194del	ENSP00000508403.1:p.Cys395TrpfsTer13
ENST00000683680.1:c.1185_1194del	ENSP00000507223.1:p.Cys395TrpfsTer13
ENST00000684163.1:c.1176_1185del	ENSP00000508262.1:p.Cys392TrpfsTer13
ENST00000684196.1:n.3542_3551del
ENST00000684325.1:c.1185_1194del	ENSP00000508121.1:p.Cys395TrpfsTer13
ENST00000684385.1:c.1185_1194del	ENSP00000507855.1:p.Cys395TrpfsTer13
ENST00000684497.1:c.1185_1194del	ENSP00000507057.1:p.Cys395TrpfsTer13
ENST00000382292.9:c.1185_1194del MANE Select	ENSP00000371729.3:p.Cys395TrpfsTer13
ENST00000423156.2:c.1185_1194del	ENSP00000390925.2:p.Cys395TrpfsTer13
ENST00000455470.6:c.1185_1194del	ENSP00000406565.2:p.Cys395TrpfsTer13
ENST00000382292.7:c.1185_1194del	ENSP00000371729.3:p.Cys395TrpfsTer13
ENST00000382298.7:c.1185_1194del	ENSP00000371735.3:p.Cys395TrpfsTer13
ENST00000402364.1:c.-1066_-1057del	ENSP00000385844.1:n.-1066_-1057del
ENST00000423156.1:c.57_66del	ENSP00000390925.1:p.Cys19TrpfsTer13
ENST00000455470.5:c.883_892del
NM_001278055.1:c.744_753del	NP_001264984.1:p.Cys248TrpfsTer13
NM_014363.5:c.1185_1194del	NP_055178.3:p.Cys395TrpfsTer13
XM_005266338.1:c.1185_1194del	XP_005266395.1:p.Cys395TrpfsTer13
XM_011535038.1:c.1209_1218del	XP_011533340.1:p.Cys403TrpfsTer13
XM_011535039.1:c.1176_1185del	XP_011533341.1:p.Cys392TrpfsTer13
XM_005266338.2:c.1185_1194del	XP_005266395.1:p.Cys395TrpfsTer13
XM_011535039.2:c.1176_1185del	XP_011533341.1:p.Cys392TrpfsTer13
XM_017020539.1:c.1176_1185del	XP_016876028.1:p.Cys392TrpfsTer13
XM_024449337.1:c.1185_1194del	XP_024305105.1:p.Cys395TrpfsTer13
NM_014363.6:c.1185_1194del MANE Select	NP_055178.3:p.Cys395TrpfsTer13
NM_001278055.2:c.744_753del	NP_001264984.1:p.Cys248TrpfsTer13