Canonical Allele Identifier: CA6910720

Gene: SACS

Linked Data

• ClinVar Variation Id: 959991
• ClinVar RCV Id: RCV001233437 ; RCV001288377 ; RCV001785796 ; RCV001847200
• dbSNP Id: rs767871841
• ExAC: 13:23909221 G / GT
• gnomAD v2: 13-23909221-G-GT
• gnomAD v3: 13-23335082-G-GT
• gnomAD v4: 13-23335082-G-GT
• COSMIC: COSM1733951 ; COSM1733952
• MyVariant Identifiers: chr13:g.23909222_23909223insT (hg19) ; chr13:g.23909221_23909222insT (hg19) ; chr13:g.23335082_23335083insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335089dup , CM000675.2:g.23335089dup	GRCh38
NC_000013.10:g.23909228dup , CM000675.1:g.23909228dup	GRCh37
NC_000013.9:g.22807228dup	NCBI36
NG_012342.1:g.103620dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18702dup	ENSP00000508399.1:n.2185+18702dup
ENST00000682944.1:c.8820dup	ENSP00000507173.1:p.Arg2941ThrfsTer7
ENST00000683210.1:c.2185+18702dup	ENSP00000506739.1:n.2185+18702dup
ENST00000683270.1:c.6445+2339dup	ENSP00000507624.1:n.6445+2339dup
ENST00000683367.1:c.2177-5599dup	ENSP00000507780.1:n.2177-5599dup
ENST00000683489.1:c.2292-5131dup	ENSP00000508403.1:n.2292-5131dup
ENST00000683680.1:c.2319-5131dup	ENSP00000507223.1:n.2319-5131dup
ENST00000684163.1:c.2204-5599dup	ENSP00000508262.1:n.2204-5599dup
ENST00000684196.1:n.4543-5599dup
ENST00000684325.1:c.2186-13409dup	ENSP00000508121.1:n.2186-13409dup
ENST00000684385.1:c.2221-5599dup	ENSP00000507855.1:n.2221-5599dup
ENST00000684497.1:c.2186-12439dup	ENSP00000507057.1:n.2186-12439dup
ENST00000382292.9:c.8793dup MANE Select	ENSP00000371729.3:p.Arg2932ThrfsTer7
ENST00000423156.2:c.2186-5599dup	ENSP00000390925.2:n.2186-5599dup
ENST00000455470.6:c.2432-5599dup	ENSP00000406565.2:n.2432-5599dup
ENST00000382292.7:c.8793dup	ENSP00000371729.3:p.Arg2932ThrfsTer7
ENST00000382298.7:c.8793dup	ENSP00000371735.3:p.Arg2932ThrfsTer7
ENST00000402364.1:c.6543dup	ENSP00000385844.1:p.Arg2182ThrfsTer7
ENST00000423156.1:c.1058-5599dup	ENSP00000390925.1:n.1058-5599dup
ENST00000455470.5:c.2130-5599dup
NM_001278055.1:c.8352dup	NP_001264984.1:p.Arg2785ThrfsTer7
NM_014363.5:c.8793dup	NP_055178.3:p.Arg2932ThrfsTer7
XM_005266338.1:c.8820dup	XP_005266395.1:p.Arg2941ThrfsTer7
XM_011535038.1:c.8844dup	XP_011533340.1:p.Arg2949ThrfsTer7
XM_011535039.1:c.8811dup	XP_011533341.1:p.Arg2938ThrfsTer7
XM_005266338.2:c.8820dup	XP_005266395.1:p.Arg2941ThrfsTer7
XM_011535039.2:c.8811dup	XP_011533341.1:p.Arg2938ThrfsTer7
XM_017020539.1:c.8784dup	XP_016876028.1:p.Arg2929ThrfsTer7
XM_024449337.1:c.8820dup	XP_024305105.1:p.Arg2941ThrfsTer7
NM_014363.6:c.8793dup MANE Select	NP_055178.3:p.Arg2932ThrfsTer7
NM_001278055.2:c.8352dup	NP_001264984.1:p.Arg2785ThrfsTer7