Canonical Allele Identifier: CA658823495

Gene: SACS

Linked Data

• ClinVar Variation Id: 557090
• ClinVar RCV Id: RCV000673181
• dbSNP Id: rs1555252944
• MyVariant Identifiers: chr13:g.23341547dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341549dup , CM000675.2:g.23341549dup	GRCh38
NC_000013.10:g.23915688dup , CM000675.1:g.23915688dup	GRCh37
NC_000013.9:g.22813688dup	NCBI36
NG_012342.1:g.97156dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+12238dup	ENSP00000508399.1:n.2185+12238dup
ENST00000682944.1:c.2356dup	ENSP00000507173.1:p.Ser786PhefsTer4
ENST00000683210.1:c.2185+12238dup	ENSP00000506739.1:n.2185+12238dup
ENST00000683270.1:c.2320dup	ENSP00000507624.1:p.Ser774PhefsTer4
ENST00000683367.1:c.2177-12063dup	ENSP00000507780.1:n.2177-12063dup
ENST00000683489.1:c.2291+38dup	ENSP00000508403.1:n.2291+38dup
ENST00000683680.1:c.2318+38dup	ENSP00000507223.1:n.2318+38dup
ENST00000684163.1:c.2203+5264dup	ENSP00000508262.1:n.2203+5264dup
ENST00000684196.1:n.4543-12063dup
ENST00000684325.1:c.2185+12238dup	ENSP00000508121.1:n.2185+12238dup
ENST00000684385.1:c.2220+5264dup	ENSP00000507855.1:n.2220+5264dup
ENST00000684497.1:c.2185+12238dup	ENSP00000507057.1:n.2185+12238dup
ENST00000382292.9:c.2329dup MANE Select	ENSP00000371729.3:p.Ser777PhefsTer4
ENST00000423156.2:c.2186-12063dup	ENSP00000390925.2:n.2186-12063dup
ENST00000455470.6:c.2329dup	ENSP00000406565.2:p.Ser777PhefsTer4
ENST00000382292.7:c.2329dup	ENSP00000371729.3:p.Ser777PhefsTer4
ENST00000382298.7:c.2329dup	ENSP00000371735.3:p.Ser777PhefsTer4
ENST00000402364.1:c.79dup	ENSP00000385844.1:p.Ser27PhefsTer4
ENST00000423156.1:c.1058-12063dup	ENSP00000390925.1:n.1058-12063dup
ENST00000455470.5:c.2027dup
NM_001278055.1:c.1888dup	NP_001264984.1:p.Ser630PhefsTer4
NM_014363.5:c.2329dup	NP_055178.3:p.Ser777PhefsTer4
XM_005266338.1:c.2356dup	XP_005266395.1:p.Ser786PhefsTer4
XM_011535038.1:c.2380dup	XP_011533340.1:p.Ser794PhefsTer4
XM_011535039.1:c.2347dup	XP_011533341.1:p.Ser783PhefsTer4
XM_005266338.2:c.2356dup	XP_005266395.1:p.Ser786PhefsTer4
XM_011535039.2:c.2347dup	XP_011533341.1:p.Ser783PhefsTer4
XM_017020539.1:c.2320dup	XP_016876028.1:p.Ser774PhefsTer4
XM_024449337.1:c.2356dup	XP_024305105.1:p.Ser786PhefsTer4
NM_014363.6:c.2329dup MANE Select	NP_055178.3:p.Ser777PhefsTer4
NM_001278055.2:c.1888dup	NP_001264984.1:p.Ser630PhefsTer4