Canonical Allele Identifier: CA2695199235

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678585
• ClinVar RCV Id: RCV003472581

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336379dup , CM000675.2:g.23336379dup	GRCh38
NC_000013.10:g.23910518dup , CM000675.1:g.23910518dup	GRCh37
NC_000013.9:g.22808518dup	NCBI36
NG_012342.1:g.102326dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17408dup	ENSP00000508399.1:n.2185+17408dup
ENST00000682944.1:c.7526dup	ENSP00000507173.1:p.Arg2511AlafsTer?
ENST00000683210.1:c.2185+17408dup	ENSP00000506739.1:n.2185+17408dup
ENST00000683270.1:c.6445+1045dup	ENSP00000507624.1:n.6445+1045dup
ENST00000683367.1:c.2177-6893dup	ENSP00000507780.1:n.2177-6893dup
ENST00000683489.1:c.2291+5208dup	ENSP00000508403.1:n.2291+5208dup
ENST00000683680.1:c.2318+5208dup	ENSP00000507223.1:n.2318+5208dup
ENST00000684163.1:c.2204-6893dup	ENSP00000508262.1:n.2204-6893dup
ENST00000684196.1:n.4543-6893dup
ENST00000684325.1:c.2186-14703dup	ENSP00000508121.1:n.2186-14703dup
ENST00000684385.1:c.2221-6893dup	ENSP00000507855.1:n.2221-6893dup
ENST00000684497.1:c.2186-13733dup	ENSP00000507057.1:n.2186-13733dup
ENST00000382292.9:c.7499dup MANE Select	ENSP00000371729.3:p.Arg2502AlafsTer?
ENST00000423156.2:c.2186-6893dup	ENSP00000390925.2:n.2186-6893dup
ENST00000455470.6:c.2431+5068dup	ENSP00000406565.2:n.2431+5068dup
ENST00000382292.7:c.7499dup	ENSP00000371729.3:p.Arg2502AlafsTer?
ENST00000382298.7:c.7499dup	ENSP00000371735.3:p.Arg2502AlafsTer?
ENST00000402364.1:c.5249dup	ENSP00000385844.1:p.Arg1752AlafsTer?
ENST00000423156.1:c.1058-6893dup	ENSP00000390925.1:n.1058-6893dup
ENST00000455470.5:c.2129+5068dup
NM_001278055.1:c.7058dup	NP_001264984.1:p.Arg2355AlafsTer?
NM_014363.5:c.7499dup	NP_055178.3:p.Arg2502AlafsTer?
XM_005266338.1:c.7526dup	XP_005266395.1:p.Arg2511AlafsTer?
XM_011535038.1:c.7550dup	XP_011533340.1:p.Arg2519AlafsTer?
XM_011535039.1:c.7517dup	XP_011533341.1:p.Arg2508AlafsTer?
XM_005266338.2:c.7526dup	XP_005266395.1:p.Arg2511AlafsTer?
XM_011535039.2:c.7517dup	XP_011533341.1:p.Arg2508AlafsTer?
XM_017020539.1:c.7490dup	XP_016876028.1:p.Arg2499AlafsTer?
XM_024449337.1:c.7526dup	XP_024305105.1:p.Arg2511AlafsTer?
NM_014363.6:c.7499dup MANE Select	NP_055178.3:p.Arg2502AlafsTer?
NM_001278055.2:c.7058dup	NP_001264984.1:p.Arg2355AlafsTer?