Canonical Allele Identifier: CA2739277469

Gene: SACS

Linked Data

• ClinVar Variation Id: 2817582
• ClinVar RCV Id: RCV003751846

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334720dup , CM000675.2:g.23334720dup	GRCh38
NC_000013.10:g.23908859dup , CM000675.1:g.23908859dup	GRCh37
NC_000013.9:g.22806859dup	NCBI36
NG_012342.1:g.103983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19065dup	ENSP00000508399.1:n.2185+19065dup
ENST00000682944.1:c.9183dup	ENSP00000507173.1:p.Glu3062ArgfsTer5
ENST00000683210.1:c.2185+19065dup	ENSP00000506739.1:n.2185+19065dup
ENST00000683270.1:c.6445+2702dup	ENSP00000507624.1:n.6445+2702dup
ENST00000683367.1:c.2177-5236dup	ENSP00000507780.1:n.2177-5236dup
ENST00000683489.1:c.2292-4768dup	ENSP00000508403.1:n.2292-4768dup
ENST00000683680.1:c.2319-4768dup	ENSP00000507223.1:n.2319-4768dup
ENST00000684163.1:c.2204-5236dup	ENSP00000508262.1:n.2204-5236dup
ENST00000684196.1:n.4543-5236dup
ENST00000684325.1:c.2186-13046dup	ENSP00000508121.1:n.2186-13046dup
ENST00000684385.1:c.2221-5236dup	ENSP00000507855.1:n.2221-5236dup
ENST00000684497.1:c.2186-12076dup	ENSP00000507057.1:n.2186-12076dup
ENST00000382292.9:c.9156dup MANE Select	ENSP00000371729.3:p.Glu3053ArgfsTer5
ENST00000423156.2:c.2186-5236dup	ENSP00000390925.2:n.2186-5236dup
ENST00000455470.6:c.2432-5236dup	ENSP00000406565.2:n.2432-5236dup
ENST00000382292.7:c.9156dup	ENSP00000371729.3:p.Glu3053ArgfsTer5
ENST00000382298.7:c.9156dup	ENSP00000371735.3:p.Glu3053ArgfsTer5
ENST00000402364.1:c.6906dup	ENSP00000385844.1:p.Glu2303ArgfsTer5
ENST00000423156.1:c.1058-5236dup	ENSP00000390925.1:n.1058-5236dup
ENST00000455470.5:c.2130-5236dup
NM_001278055.1:c.8715dup	NP_001264984.1:p.Glu2906ArgfsTer5
NM_014363.5:c.9156dup	NP_055178.3:p.Glu3053ArgfsTer5
XM_005266338.1:c.9183dup	XP_005266395.1:p.Glu3062ArgfsTer5
XM_011535038.1:c.9207dup	XP_011533340.1:p.Glu3070ArgfsTer5
XM_011535039.1:c.9174dup	XP_011533341.1:p.Glu3059ArgfsTer5
XM_005266338.2:c.9183dup	XP_005266395.1:p.Glu3062ArgfsTer5
XM_011535039.2:c.9174dup	XP_011533341.1:p.Glu3059ArgfsTer5
XM_017020539.1:c.9147dup	XP_016876028.1:p.Glu3050ArgfsTer5
XM_024449337.1:c.9183dup	XP_024305105.1:p.Glu3062ArgfsTer5
NM_014363.6:c.9156dup MANE Select	NP_055178.3:p.Glu3053ArgfsTer5
NM_001278055.2:c.8715dup	NP_001264984.1:p.Glu2906ArgfsTer5