Canonical Allele Identifier: CA2622329074

Gene: SACS

Linked Data

• gnomAD v4: 13-23338624-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338625dup , CM000675.2:g.23338625dup	GRCh38
NC_000013.10:g.23912764dup , CM000675.1:g.23912764dup	GRCh37
NC_000013.9:g.22810764dup	NCBI36
NG_012342.1:g.100078dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15160dup	ENSP00000508399.1:n.2185+15160dup
ENST00000682944.1:c.5278dup	ENSP00000507173.1:p.Ser1760LysfsTer2
ENST00000683210.1:c.2185+15160dup	ENSP00000506739.1:n.2185+15160dup
ENST00000683270.1:c.5242dup	ENSP00000507624.1:p.Ser1748LysfsTer2
ENST00000683367.1:c.2177-9141dup	ENSP00000507780.1:n.2177-9141dup
ENST00000683489.1:c.2291+2960dup	ENSP00000508403.1:n.2291+2960dup
ENST00000683680.1:c.2318+2960dup	ENSP00000507223.1:n.2318+2960dup
ENST00000684163.1:c.2203+8186dup	ENSP00000508262.1:n.2203+8186dup
ENST00000684196.1:n.4543-9141dup
ENST00000684325.1:c.2185+15160dup	ENSP00000508121.1:n.2185+15160dup
ENST00000684385.1:c.2220+8186dup	ENSP00000507855.1:n.2220+8186dup
ENST00000684497.1:c.2185+15160dup	ENSP00000507057.1:n.2185+15160dup
ENST00000382292.9:c.5251dup MANE Select	ENSP00000371729.3:p.Ser1751LysfsTer2
ENST00000423156.2:c.2186-9141dup	ENSP00000390925.2:n.2186-9141dup
ENST00000455470.6:c.2431+2820dup	ENSP00000406565.2:n.2431+2820dup
ENST00000382292.7:c.5251dup	ENSP00000371729.3:p.Ser1751LysfsTer2
ENST00000382298.7:c.5251dup	ENSP00000371735.3:p.Ser1751LysfsTer2
ENST00000402364.1:c.3001dup	ENSP00000385844.1:p.Ser1001LysfsTer2
ENST00000423156.1:c.1058-9141dup	ENSP00000390925.1:n.1058-9141dup
ENST00000455470.5:c.2129+2820dup
NM_001278055.1:c.4810dup	NP_001264984.1:p.Ser1604LysfsTer2
NM_014363.5:c.5251dup	NP_055178.3:p.Ser1751LysfsTer2
XM_005266338.1:c.5278dup	XP_005266395.1:p.Ser1760LysfsTer2
XM_011535038.1:c.5302dup	XP_011533340.1:p.Ser1768LysfsTer2
XM_011535039.1:c.5269dup	XP_011533341.1:p.Ser1757LysfsTer2
XM_005266338.2:c.5278dup	XP_005266395.1:p.Ser1760LysfsTer2
XM_011535039.2:c.5269dup	XP_011533341.1:p.Ser1757LysfsTer2
XM_017020539.1:c.5242dup	XP_016876028.1:p.Ser1748LysfsTer2
XM_024449337.1:c.5278dup	XP_024305105.1:p.Ser1760LysfsTer2
NM_014363.6:c.5251dup MANE Select	NP_055178.3:p.Ser1751LysfsTer2
NM_001278055.2:c.4810dup	NP_001264984.1:p.Ser1604LysfsTer2