Canonical Allele Identifier: CA6910843

Gene: SACS

Linked Data

• dbSNP Id: rs746064318
• ExAC: 13:23910042 G / GC
• gnomAD v2: 13-23910042-G-GC
• gnomAD v4: 13-23335903-G-GC
• MyVariant Identifiers: chr13:g.23910042_23910043insC (hg19) ; chr13:g.23335903_23335904insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335907dup , CM000675.2:g.23335907dup	GRCh38
NC_000013.10:g.23910046dup , CM000675.1:g.23910046dup	GRCh37
NC_000013.9:g.22808046dup	NCBI36
NG_012342.1:g.102799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17881dup	ENSP00000508399.1:n.2185+17881dup
ENST00000682944.1:c.7999dup	ENSP00000507173.1:p.Ala2667GlyfsTer5
ENST00000683210.1:c.2185+17881dup	ENSP00000506739.1:n.2185+17881dup
ENST00000683270.1:c.6445+1518dup	ENSP00000507624.1:n.6445+1518dup
ENST00000683367.1:c.2177-6420dup	ENSP00000507780.1:n.2177-6420dup
ENST00000683489.1:c.2291+5681dup	ENSP00000508403.1:n.2291+5681dup
ENST00000683680.1:c.2318+5681dup	ENSP00000507223.1:n.2318+5681dup
ENST00000684163.1:c.2204-6420dup	ENSP00000508262.1:n.2204-6420dup
ENST00000684196.1:n.4543-6420dup
ENST00000684325.1:c.2186-14230dup	ENSP00000508121.1:n.2186-14230dup
ENST00000684385.1:c.2221-6420dup	ENSP00000507855.1:n.2221-6420dup
ENST00000684497.1:c.2186-13260dup	ENSP00000507057.1:n.2186-13260dup
ENST00000382292.9:c.7972dup MANE Select	ENSP00000371729.3:p.Ala2658GlyfsTer5
ENST00000423156.2:c.2186-6420dup	ENSP00000390925.2:n.2186-6420dup
ENST00000455470.6:c.2431+5541dup	ENSP00000406565.2:n.2431+5541dup
ENST00000382292.7:c.7972dup	ENSP00000371729.3:p.Ala2658GlyfsTer5
ENST00000382298.7:c.7972dup	ENSP00000371735.3:p.Ala2658GlyfsTer5
ENST00000402364.1:c.5722dup	ENSP00000385844.1:p.Ala1908GlyfsTer5
ENST00000423156.1:c.1058-6420dup	ENSP00000390925.1:n.1058-6420dup
ENST00000455470.5:c.2129+5541dup
NM_001278055.1:c.7531dup	NP_001264984.1:p.Ala2511GlyfsTer5
NM_014363.5:c.7972dup	NP_055178.3:p.Ala2658GlyfsTer5
XM_005266338.1:c.7999dup	XP_005266395.1:p.Ala2667GlyfsTer5
XM_011535038.1:c.8023dup	XP_011533340.1:p.Ala2675GlyfsTer5
XM_011535039.1:c.7990dup	XP_011533341.1:p.Ala2664GlyfsTer5
XM_005266338.2:c.7999dup	XP_005266395.1:p.Ala2667GlyfsTer5
XM_011535039.2:c.7990dup	XP_011533341.1:p.Ala2664GlyfsTer5
XM_017020539.1:c.7963dup	XP_016876028.1:p.Ala2655GlyfsTer5
XM_024449337.1:c.7999dup	XP_024305105.1:p.Ala2667GlyfsTer5
NM_014363.6:c.7972dup MANE Select	NP_055178.3:p.Ala2658GlyfsTer5
NM_001278055.2:c.7531dup	NP_001264984.1:p.Ala2511GlyfsTer5