Canonical Allele Identifier: CA2580086882

Gene: SACS

Linked Data

• ClinVar Variation Id: 1724679
• ClinVar RCV Id: RCV002309947

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358401del , CM000675.2:g.23358401del	GRCh38
NC_000013.10:g.23932540del , CM000675.1:g.23932540del	GRCh37
NC_000013.9:g.22830540del	NCBI36
NG_012342.1:g.80306del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.542del	ENSP00000508399.1:p.Lys181ArgfsTer5
ENST00000682944.1:c.542del	ENSP00000507173.1:p.Lys181ArgfsTer5
ENST00000683154.1:n.680del
ENST00000683210.1:c.542del	ENSP00000506739.1:p.Lys181ArgfsTer5
ENST00000683270.1:c.533del	ENSP00000507624.1:p.Lys178ArgfsTer5
ENST00000683367.1:c.533del	ENSP00000507780.1:p.Lys178ArgfsTer5
ENST00000683489.1:c.542del	ENSP00000508403.1:p.Lys181ArgfsTer5
ENST00000683680.1:c.542del	ENSP00000507223.1:p.Lys181ArgfsTer5
ENST00000684163.1:c.533del	ENSP00000508262.1:p.Lys178ArgfsTer5
ENST00000684196.1:n.2899del
ENST00000684325.1:c.542del	ENSP00000508121.1:p.Lys181ArgfsTer5
ENST00000684385.1:c.542del	ENSP00000507855.1:p.Lys181ArgfsTer5
ENST00000684497.1:c.542del	ENSP00000507057.1:p.Lys181ArgfsTer5
ENST00000382292.9:c.542del MANE Select	ENSP00000371729.3:p.Lys181ArgfsTer5
ENST00000423156.2:c.542del	ENSP00000390925.2:p.Lys181ArgfsTer5
ENST00000455470.6:c.542del	ENSP00000406565.2:p.Lys181ArgfsTer5
ENST00000382292.7:c.542del	ENSP00000371729.3:p.Lys181ArgfsTer5
ENST00000382298.7:c.542del	ENSP00000371735.3:p.Lys181ArgfsTer5
ENST00000402364.1:c.-1709del	ENSP00000385844.1:n.-1709del
ENST00000455470.5:c.240del
NM_001278055.1:c.101del	NP_001264984.1:p.Lys34ArgfsTer5
NM_014363.5:c.542del	NP_055178.3:p.Lys181ArgfsTer5
XM_005266338.1:c.542del	XP_005266395.1:p.Lys181ArgfsTer5
XM_011535038.1:c.566del	XP_011533340.1:p.Lys189ArgfsTer5
XM_011535039.1:c.533del	XP_011533341.1:p.Lys178ArgfsTer5
XM_005266338.2:c.542del	XP_005266395.1:p.Lys181ArgfsTer5
XM_011535039.2:c.533del	XP_011533341.1:p.Lys178ArgfsTer5
XM_017020539.1:c.533del	XP_016876028.1:p.Lys178ArgfsTer5
XM_024449337.1:c.542del	XP_024305105.1:p.Lys181ArgfsTer5
NM_014363.6:c.542del MANE Select	NP_055178.3:p.Lys181ArgfsTer5
NM_001278055.2:c.101del	NP_001264984.1:p.Lys34ArgfsTer5