Canonical Allele Identifier: CA2622329001

Gene: SACS

Linked Data

• gnomAD v4: 13-23336110-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336113dup , CM000675.2:g.23336113dup	GRCh38
NC_000013.10:g.23910252dup , CM000675.1:g.23910252dup	GRCh37
NC_000013.9:g.22808252dup	NCBI36
NG_012342.1:g.102592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17674dup	ENSP00000508399.1:n.2185+17674dup
ENST00000682944.1:c.7792dup	ENSP00000507173.1:p.Cys2598LeufsTer12
ENST00000683210.1:c.2185+17674dup	ENSP00000506739.1:n.2185+17674dup
ENST00000683270.1:c.6445+1311dup	ENSP00000507624.1:n.6445+1311dup
ENST00000683367.1:c.2177-6627dup	ENSP00000507780.1:n.2177-6627dup
ENST00000683489.1:c.2291+5474dup	ENSP00000508403.1:n.2291+5474dup
ENST00000683680.1:c.2318+5474dup	ENSP00000507223.1:n.2318+5474dup
ENST00000684163.1:c.2204-6627dup	ENSP00000508262.1:n.2204-6627dup
ENST00000684196.1:n.4543-6627dup
ENST00000684325.1:c.2186-14437dup	ENSP00000508121.1:n.2186-14437dup
ENST00000684385.1:c.2221-6627dup	ENSP00000507855.1:n.2221-6627dup
ENST00000684497.1:c.2186-13467dup	ENSP00000507057.1:n.2186-13467dup
ENST00000382292.9:c.7765dup MANE Select	ENSP00000371729.3:p.Cys2589LeufsTer12
ENST00000423156.2:c.2186-6627dup	ENSP00000390925.2:n.2186-6627dup
ENST00000455470.6:c.2431+5334dup	ENSP00000406565.2:n.2431+5334dup
ENST00000382292.7:c.7765dup	ENSP00000371729.3:p.Cys2589LeufsTer12
ENST00000382298.7:c.7765dup	ENSP00000371735.3:p.Cys2589LeufsTer12
ENST00000402364.1:c.5515dup	ENSP00000385844.1:p.Cys1839LeufsTer12
ENST00000423156.1:c.1058-6627dup	ENSP00000390925.1:n.1058-6627dup
ENST00000455470.5:c.2129+5334dup
NM_001278055.1:c.7324dup	NP_001264984.1:p.Cys2442LeufsTer12
NM_014363.5:c.7765dup	NP_055178.3:p.Cys2589LeufsTer12
XM_005266338.1:c.7792dup	XP_005266395.1:p.Cys2598LeufsTer12
XM_011535038.1:c.7816dup	XP_011533340.1:p.Cys2606LeufsTer12
XM_011535039.1:c.7783dup	XP_011533341.1:p.Cys2595LeufsTer12
XM_005266338.2:c.7792dup	XP_005266395.1:p.Cys2598LeufsTer12
XM_011535039.2:c.7783dup	XP_011533341.1:p.Cys2595LeufsTer12
XM_017020539.1:c.7756dup	XP_016876028.1:p.Cys2586LeufsTer12
XM_024449337.1:c.7792dup	XP_024305105.1:p.Cys2598LeufsTer12
NM_014363.6:c.7765dup MANE Select	NP_055178.3:p.Cys2589LeufsTer12
NM_001278055.2:c.7324dup	NP_001264984.1:p.Cys2442LeufsTer12