Canonical Allele Identifier: CA2499221979

Gene: SACS

Linked Data

• ClinVar Variation Id: 1179010
• ClinVar RCV Id: RCV001535819
• dbSNP Id: rs2137613912
• gnomAD v4: 13-23337903-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337904dup , CM000675.2:g.23337904dup	GRCh38
NC_000013.10:g.23912043dup , CM000675.1:g.23912043dup	GRCh37
NC_000013.9:g.22810043dup	NCBI36
NG_012342.1:g.100799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15881dup	ENSP00000508399.1:n.2185+15881dup
ENST00000682944.1:c.5999dup	ENSP00000507173.1:p.Arg2001LysfsTer5
ENST00000683210.1:c.2185+15881dup	ENSP00000506739.1:n.2185+15881dup
ENST00000683270.1:c.5963dup	ENSP00000507624.1:p.Arg1989LysfsTer5
ENST00000683367.1:c.2177-8420dup	ENSP00000507780.1:n.2177-8420dup
ENST00000683489.1:c.2291+3681dup	ENSP00000508403.1:n.2291+3681dup
ENST00000683680.1:c.2318+3681dup	ENSP00000507223.1:n.2318+3681dup
ENST00000684163.1:c.2204-8420dup	ENSP00000508262.1:n.2204-8420dup
ENST00000684196.1:n.4543-8420dup
ENST00000684325.1:c.2185+15881dup	ENSP00000508121.1:n.2185+15881dup
ENST00000684385.1:c.2221-8420dup	ENSP00000507855.1:n.2221-8420dup
ENST00000684497.1:c.2186-15260dup	ENSP00000507057.1:n.2186-15260dup
ENST00000382292.9:c.5972dup MANE Select	ENSP00000371729.3:p.Arg1992LysfsTer5
ENST00000423156.2:c.2186-8420dup	ENSP00000390925.2:n.2186-8420dup
ENST00000455470.6:c.2431+3541dup	ENSP00000406565.2:n.2431+3541dup
ENST00000382292.7:c.5972dup	ENSP00000371729.3:p.Arg1992LysfsTer5
ENST00000382298.7:c.5972dup	ENSP00000371735.3:p.Arg1992LysfsTer5
ENST00000402364.1:c.3722dup	ENSP00000385844.1:p.Arg1242LysfsTer5
ENST00000423156.1:c.1058-8420dup	ENSP00000390925.1:n.1058-8420dup
ENST00000455470.5:c.2129+3541dup
NM_001278055.1:c.5531dup	NP_001264984.1:p.Arg1845LysfsTer5
NM_014363.5:c.5972dup	NP_055178.3:p.Arg1992LysfsTer5
XM_005266338.1:c.5999dup	XP_005266395.1:p.Arg2001LysfsTer5
XM_011535038.1:c.6023dup	XP_011533340.1:p.Arg2009LysfsTer5
XM_011535039.1:c.5990dup	XP_011533341.1:p.Arg1998LysfsTer5
XM_005266338.2:c.5999dup	XP_005266395.1:p.Arg2001LysfsTer5
XM_011535039.2:c.5990dup	XP_011533341.1:p.Arg1998LysfsTer5
XM_017020539.1:c.5963dup	XP_016876028.1:p.Arg1989LysfsTer5
XM_024449337.1:c.5999dup	XP_024305105.1:p.Arg2001LysfsTer5
NM_014363.6:c.5972dup MANE Select	NP_055178.3:p.Arg1992LysfsTer5
NM_001278055.2:c.5531dup	NP_001264984.1:p.Arg1845LysfsTer5