Canonical Allele Identifier: CA1139663009

Gene: SACS

Linked Data

• ClinVar Variation Id: 985165
• ClinVar RCV Id: RCV001265929
• dbSNP Id: rs1869136727

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340817dup , CM000675.2:g.23340817dup	GRCh38
NC_000013.10:g.23914956dup , CM000675.1:g.23914956dup	GRCh37
NC_000013.9:g.22812956dup	NCBI36
NG_012342.1:g.97886dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12968dup	ENSP00000508399.1:n.2185+12968dup
ENST00000682944.1:c.3086dup	ENSP00000507173.1:p.Ser1030IlefsTer4
ENST00000683210.1:c.2185+12968dup	ENSP00000506739.1:n.2185+12968dup
ENST00000683270.1:c.3050dup	ENSP00000507624.1:p.Ser1018IlefsTer4
ENST00000683367.1:c.2177-11333dup	ENSP00000507780.1:n.2177-11333dup
ENST00000683489.1:c.2291+768dup	ENSP00000508403.1:n.2291+768dup
ENST00000683680.1:c.2318+768dup	ENSP00000507223.1:n.2318+768dup
ENST00000684163.1:c.2203+5994dup	ENSP00000508262.1:n.2203+5994dup
ENST00000684196.1:n.4543-11333dup
ENST00000684325.1:c.2185+12968dup	ENSP00000508121.1:n.2185+12968dup
ENST00000684385.1:c.2220+5994dup	ENSP00000507855.1:n.2220+5994dup
ENST00000684497.1:c.2185+12968dup	ENSP00000507057.1:n.2185+12968dup
ENST00000382292.9:c.3059dup MANE Select	ENSP00000371729.3:p.Ser1021IlefsTer4
ENST00000423156.2:c.2186-11333dup	ENSP00000390925.2:n.2186-11333dup
ENST00000455470.6:c.2431+628dup	ENSP00000406565.2:n.2431+628dup
ENST00000382292.7:c.3059dup	ENSP00000371729.3:p.Ser1021IlefsTer4
ENST00000382298.7:c.3059dup	ENSP00000371735.3:p.Ser1021IlefsTer4
ENST00000402364.1:c.809dup	ENSP00000385844.1:p.Ser271IlefsTer4
ENST00000423156.1:c.1058-11333dup	ENSP00000390925.1:n.1058-11333dup
ENST00000455470.5:c.2129+628dup
NM_001278055.1:c.2618dup	NP_001264984.1:p.Ser874IlefsTer4
NM_014363.5:c.3059dup	NP_055178.3:p.Ser1021IlefsTer4
XM_005266338.1:c.3086dup	XP_005266395.1:p.Ser1030IlefsTer4
XM_011535038.1:c.3110dup	XP_011533340.1:p.Ser1038IlefsTer4
XM_011535039.1:c.3077dup	XP_011533341.1:p.Ser1027IlefsTer4
XM_005266338.2:c.3086dup	XP_005266395.1:p.Ser1030IlefsTer4
XM_011535039.2:c.3077dup	XP_011533341.1:p.Ser1027IlefsTer4
XM_017020539.1:c.3050dup	XP_016876028.1:p.Ser1018IlefsTer4
XM_024449337.1:c.3086dup	XP_024305105.1:p.Ser1030IlefsTer4
NM_014363.6:c.3059dup MANE Select	NP_055178.3:p.Ser1021IlefsTer4
NM_001278055.2:c.2618dup	NP_001264984.1:p.Ser874IlefsTer4