Canonical Allele Identifier: CA2622329017

Gene: SACS

Linked Data

• gnomAD v4: 13-23336545-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336549dup , CM000675.2:g.23336549dup	GRCh38
NC_000013.10:g.23910688dup , CM000675.1:g.23910688dup	GRCh37
NC_000013.9:g.22808688dup	NCBI36
NG_012342.1:g.102157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17239dup	ENSP00000508399.1:n.2185+17239dup
ENST00000682944.1:c.7357dup	ENSP00000507173.1:p.Cys2453LeufsTer2
ENST00000683210.1:c.2185+17239dup	ENSP00000506739.1:n.2185+17239dup
ENST00000683270.1:c.6445+876dup	ENSP00000507624.1:n.6445+876dup
ENST00000683367.1:c.2177-7062dup	ENSP00000507780.1:n.2177-7062dup
ENST00000683489.1:c.2291+5039dup	ENSP00000508403.1:n.2291+5039dup
ENST00000683680.1:c.2318+5039dup	ENSP00000507223.1:n.2318+5039dup
ENST00000684163.1:c.2204-7062dup	ENSP00000508262.1:n.2204-7062dup
ENST00000684196.1:n.4543-7062dup
ENST00000684325.1:c.2186-14872dup	ENSP00000508121.1:n.2186-14872dup
ENST00000684385.1:c.2221-7062dup	ENSP00000507855.1:n.2221-7062dup
ENST00000684497.1:c.2186-13902dup	ENSP00000507057.1:n.2186-13902dup
ENST00000382292.9:c.7330dup MANE Select	ENSP00000371729.3:p.Cys2444LeufsTer2
ENST00000423156.2:c.2186-7062dup	ENSP00000390925.2:n.2186-7062dup
ENST00000455470.6:c.2431+4899dup	ENSP00000406565.2:n.2431+4899dup
ENST00000382292.7:c.7330dup	ENSP00000371729.3:p.Cys2444LeufsTer2
ENST00000382298.7:c.7330dup	ENSP00000371735.3:p.Cys2444LeufsTer2
ENST00000402364.1:c.5080dup	ENSP00000385844.1:p.Cys1694LeufsTer2
ENST00000423156.1:c.1058-7062dup	ENSP00000390925.1:n.1058-7062dup
ENST00000455470.5:c.2129+4899dup
NM_001278055.1:c.6889dup	NP_001264984.1:p.Cys2297LeufsTer2
NM_014363.5:c.7330dup	NP_055178.3:p.Cys2444LeufsTer2
XM_005266338.1:c.7357dup	XP_005266395.1:p.Cys2453LeufsTer2
XM_011535038.1:c.7381dup	XP_011533340.1:p.Cys2461LeufsTer2
XM_011535039.1:c.7348dup	XP_011533341.1:p.Cys2450LeufsTer2
XM_005266338.2:c.7357dup	XP_005266395.1:p.Cys2453LeufsTer2
XM_011535039.2:c.7348dup	XP_011533341.1:p.Cys2450LeufsTer2
XM_017020539.1:c.7321dup	XP_016876028.1:p.Cys2441LeufsTer2
XM_024449337.1:c.7357dup	XP_024305105.1:p.Cys2453LeufsTer2
NM_014363.6:c.7330dup MANE Select	NP_055178.3:p.Cys2444LeufsTer2
NM_001278055.2:c.6889dup	NP_001264984.1:p.Cys2297LeufsTer2