Canonical Allele Identifier: CA954044340

Gene: SACS

Linked Data

• ClinVar Variation Id: 2989233
• ClinVar RCV Id: RCV003849384
• dbSNP Id: rs1871673221
• gnomAD v3: 13-23375184-C-CCTTCACATCG
• gnomAD v4: 13-23375184-C-CCTTCACATCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23375186_23375195dup , CM000675.2:g.23375186_23375195dup	GRCh38
NC_000013.10:g.23949325_23949334dup , CM000675.1:g.23949325_23949334dup	GRCh37
NC_000013.9:g.22847325_22847334dup	NCBI36
NG_012342.1:g.63509_63518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682244.1:n.669_678dup
ENST00000682547.1:c.133_142dup	ENSP00000507735.1:p.Gly48AlafsTer3
ENST00000682775.1:c.96_105dup	ENSP00000508399.1:p.Glu36ArgfsTer28
ENST00000682944.1:c.96_105dup	ENSP00000507173.1:p.Glu36ArgfsTer28
ENST00000683154.1:n.234_243dup
ENST00000683210.1:c.96_105dup	ENSP00000506739.1:p.Glu36ArgfsTer28
ENST00000683270.1:c.87_96dup	ENSP00000507624.1:p.Glu33ArgfsTer28
ENST00000683367.1:c.87_96dup	ENSP00000507780.1:p.Glu33ArgfsTer28
ENST00000683489.1:c.96_105dup	ENSP00000508403.1:p.Glu36ArgfsTer28
ENST00000683680.1:c.96_105dup	ENSP00000507223.1:p.Glu36ArgfsTer28
ENST00000684053.1:n.213_222dup
ENST00000684163.1:c.87_96dup	ENSP00000508262.1:p.Glu33ArgfsTer28
ENST00000684325.1:c.96_105dup	ENSP00000508121.1:p.Glu36ArgfsTer28
ENST00000684385.1:c.96_105dup	ENSP00000507855.1:p.Glu36ArgfsTer28
ENST00000684497.1:c.96_105dup	ENSP00000507057.1:p.Glu36ArgfsTer28
ENST00000382292.9:c.96_105dup MANE Select	ENSP00000371729.3:p.Glu36ArgfsTer28
ENST00000423156.2:c.96_105dup	ENSP00000390925.2:p.Glu36ArgfsTer28
ENST00000455470.6:c.96_105dup	ENSP00000406565.2:p.Glu36ArgfsTer28
ENST00000382292.7:c.96_105dup	ENSP00000371729.3:p.Glu36ArgfsTer28
ENST00000382298.7:c.96_105dup	ENSP00000371735.3:p.Glu36ArgfsTer28
ENST00000402364.1:c.-2067_-2058dup	ENSP00000385844.1:n.-2067_-2058dup
NM_001278055.1:c.-258_-249dup	NP_001264984.1:n.-258_-249dup
NM_014363.5:c.96_105dup	NP_055178.3:p.Glu36ArgfsTer28
XM_005266338.1:c.96_105dup	XP_005266395.1:p.Glu36ArgfsTer28
XM_011535038.1:c.120_129dup	XP_011533340.1:p.Glu44ArgfsTer28
XM_011535039.1:c.87_96dup	XP_011533341.1:p.Glu33ArgfsTer28
XM_005266338.2:c.96_105dup	XP_005266395.1:p.Glu36ArgfsTer28
XM_011535039.2:c.87_96dup	XP_011533341.1:p.Glu33ArgfsTer28
XM_017020539.1:c.87_96dup	XP_016876028.1:p.Glu33ArgfsTer28
XM_024449337.1:c.96_105dup	XP_024305105.1:p.Glu36ArgfsTer28
NM_014363.6:c.96_105dup MANE Select	NP_055178.3:p.Glu36ArgfsTer28
NM_001278055.2:c.-258_-249dup	NP_001264984.1:n.-258_-249dup