Canonical Allele Identifier: CA2499940819

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330219del , CM000675.2:g.23330219del	GRCh38
NC_000013.10:g.23904358del , CM000675.1:g.23904358del	GRCh37
NC_000013.9:g.22802358del	NCBI36
NG_012342.1:g.108484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18104del	ENSP00000508399.1:n.2186-18104del
ENST00000682944.1:c.13684del	ENSP00000507173.1:p.Thr4562LeufsTer6
ENST00000683210.1:c.2185+23566del	ENSP00000506739.1:n.2185+23566del
ENST00000683270.1:c.6446-735del	ENSP00000507624.1:n.6446-735del
ENST00000683367.1:c.2177-735del	ENSP00000507780.1:n.2177-735del
ENST00000683489.1:c.2292-267del	ENSP00000508403.1:n.2292-267del
ENST00000683680.1:c.2319-267del	ENSP00000507223.1:n.2319-267del
ENST00000684163.1:c.2204-735del	ENSP00000508262.1:n.2204-735del
ENST00000684196.1:n.4543-735del
ENST00000684325.1:c.2186-8545del	ENSP00000508121.1:n.2186-8545del
ENST00000684385.1:c.2221-735del	ENSP00000507855.1:n.2221-735del
ENST00000684497.1:c.2186-7575del	ENSP00000507057.1:n.2186-7575del
ENST00000382292.9:c.13657del MANE Select	ENSP00000371729.3:p.Thr4553LeufsTer6
ENST00000423156.2:c.2186-735del	ENSP00000390925.2:n.2186-735del
ENST00000455470.6:c.2432-735del	ENSP00000406565.2:n.2432-735del
ENST00000382292.7:c.13657del	ENSP00000371729.3:p.Thr4553LeufsTer6
ENST00000382298.7:c.13657del	ENSP00000371735.3:p.Thr4553LeufsTer6
ENST00000402364.1:c.11407del	ENSP00000385844.1:p.Thr3803LeufsTer6
ENST00000423156.1:c.1058-735del	ENSP00000390925.1:n.1058-735del
ENST00000455470.5:c.2130-735del
NM_001278055.1:c.13216del	NP_001264984.1:p.Thr4406LeufsTer6
NM_014363.5:c.13657del	NP_055178.3:p.Thr4553LeufsTer6
XM_005266338.1:c.13684del	XP_005266395.1:p.Thr4562LeufsTer6
XM_011535038.1:c.13708del	XP_011533340.1:p.Thr4570LeufsTer6
XM_011535039.1:c.13675del	XP_011533341.1:p.Thr4559LeufsTer6
XM_005266338.2:c.13684del	XP_005266395.1:p.Thr4562LeufsTer6
XM_011535039.2:c.13675del	XP_011533341.1:p.Thr4559LeufsTer6
XM_017020539.1:c.13648del	XP_016876028.1:p.Thr4550LeufsTer6
XM_024449337.1:c.13684del	XP_024305105.1:p.Thr4562LeufsTer6
NM_014363.6:c.13657del MANE Select	NP_055178.3:p.Thr4553LeufsTer6
NM_001278055.2:c.13216del	NP_001264984.1:p.Thr4406LeufsTer6