Canonical Allele Identifier: CA658823550

Gene: SACS

Linked Data

• ClinVar Variation Id: 555108
• ClinVar RCV Id: RCV000670859
• dbSNP Id: rs1555251960
• MyVariant Identifiers: chr13:g.23337875dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337878dup , CM000675.2:g.23337878dup	GRCh38
NC_000013.10:g.23912017dup , CM000675.1:g.23912017dup	GRCh37
NC_000013.9:g.22810017dup	NCBI36
NG_012342.1:g.100828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15910dup	ENSP00000508399.1:n.2185+15910dup
ENST00000682944.1:c.6028dup	ENSP00000507173.1:p.Arg2010LysfsTer28
ENST00000683210.1:c.2185+15910dup	ENSP00000506739.1:n.2185+15910dup
ENST00000683270.1:c.5992dup	ENSP00000507624.1:p.Arg1998LysfsTer28
ENST00000683367.1:c.2177-8391dup	ENSP00000507780.1:n.2177-8391dup
ENST00000683489.1:c.2291+3710dup	ENSP00000508403.1:n.2291+3710dup
ENST00000683680.1:c.2318+3710dup	ENSP00000507223.1:n.2318+3710dup
ENST00000684163.1:c.2204-8391dup	ENSP00000508262.1:n.2204-8391dup
ENST00000684196.1:n.4543-8391dup
ENST00000684325.1:c.2185+15910dup	ENSP00000508121.1:n.2185+15910dup
ENST00000684385.1:c.2221-8391dup	ENSP00000507855.1:n.2221-8391dup
ENST00000684497.1:c.2186-15231dup	ENSP00000507057.1:n.2186-15231dup
ENST00000382292.9:c.6001dup MANE Select	ENSP00000371729.3:p.Arg2001LysfsTer28
ENST00000423156.2:c.2186-8391dup	ENSP00000390925.2:n.2186-8391dup
ENST00000455470.6:c.2431+3570dup	ENSP00000406565.2:n.2431+3570dup
ENST00000382292.7:c.6001dup	ENSP00000371729.3:p.Arg2001LysfsTer28
ENST00000382298.7:c.6001dup	ENSP00000371735.3:p.Arg2001LysfsTer28
ENST00000402364.1:c.3751dup	ENSP00000385844.1:p.Arg1251LysfsTer28
ENST00000423156.1:c.1058-8391dup	ENSP00000390925.1:n.1058-8391dup
ENST00000455470.5:c.2129+3570dup
NM_001278055.1:c.5560dup	NP_001264984.1:p.Arg1854LysfsTer28
NM_014363.5:c.6001dup	NP_055178.3:p.Arg2001LysfsTer28
XM_005266338.1:c.6028dup	XP_005266395.1:p.Arg2010LysfsTer28
XM_011535038.1:c.6052dup	XP_011533340.1:p.Arg2018LysfsTer28
XM_011535039.1:c.6019dup	XP_011533341.1:p.Arg2007LysfsTer28
XM_005266338.2:c.6028dup	XP_005266395.1:p.Arg2010LysfsTer28
XM_011535039.2:c.6019dup	XP_011533341.1:p.Arg2007LysfsTer28
XM_017020539.1:c.5992dup	XP_016876028.1:p.Arg1998LysfsTer28
XM_024449337.1:c.6028dup	XP_024305105.1:p.Arg2010LysfsTer28
NM_014363.6:c.6001dup MANE Select	NP_055178.3:p.Arg2001LysfsTer28
NM_001278055.2:c.5560dup	NP_001264984.1:p.Arg1854LysfsTer28