Canonical Allele Identifier: CA608985275

Gene: SACS

Linked Data

• dbSNP Id: rs1376820686
• gnomAD v2: 13-23913860-T-TTTGCTA
• gnomAD v3: 13-23339721-T-TTTGCTA
• gnomAD v4: 13-23339721-T-TTTGCTA
• MyVariant Identifiers: chr13:g.23913860_23913861insTTGCTA (hg19) ; chr13:g.23339721_23339722insTTGCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339723_23339728dup , CM000675.2:g.23339723_23339728dup	GRCh38
NC_000013.10:g.23913862_23913867dup , CM000675.1:g.23913862_23913867dup	GRCh37
NC_000013.9:g.22811862_22811867dup	NCBI36
NG_012342.1:g.98976_98981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14058_2185+14063dup	ENSP00000508399.1:n.2185+14058_2185+14063dup
ENST00000682944.1:c.4176_4181dup	ENSP00000507173.1:p.Ser1393_Lys1394insAsnSer
ENST00000683210.1:c.2185+14058_2185+14063dup	ENSP00000506739.1:n.2185+14058_2185+14063dup
ENST00000683270.1:c.4140_4145dup	ENSP00000507624.1:p.Ser1381_Lys1382insAsnSer
ENST00000683367.1:c.2177-10243_2177-10238dup	ENSP00000507780.1:n.2177-10243_2177-10238dup
ENST00000683489.1:c.2291+1858_2291+1863dup	ENSP00000508403.1:n.2291+1858_2291+1863dup
ENST00000683680.1:c.2318+1858_2318+1863dup	ENSP00000507223.1:n.2318+1858_2318+1863dup
ENST00000684163.1:c.2203+7084_2203+7089dup	ENSP00000508262.1:n.2203+7084_2203+7089dup
ENST00000684196.1:n.4543-10243_4543-10238dup
ENST00000684325.1:c.2185+14058_2185+14063dup	ENSP00000508121.1:n.2185+14058_2185+14063dup
ENST00000684385.1:c.2220+7084_2220+7089dup	ENSP00000507855.1:n.2220+7084_2220+7089dup
ENST00000684497.1:c.2185+14058_2185+14063dup	ENSP00000507057.1:n.2185+14058_2185+14063dup
ENST00000382292.9:c.4149_4154dup MANE Select	ENSP00000371729.3:p.Ser1384_Lys1385insAsnSer
ENST00000423156.2:c.2186-10243_2186-10238dup	ENSP00000390925.2:n.2186-10243_2186-10238dup
ENST00000455470.6:c.2431+1718_2431+1723dup	ENSP00000406565.2:n.2431+1718_2431+1723dup
ENST00000382292.7:c.4149_4154dup	ENSP00000371729.3:p.Ser1384_Lys1385insAsnSer
ENST00000382298.7:c.4149_4154dup	ENSP00000371735.3:p.Ser1384_Lys1385insAsnSer
ENST00000402364.1:c.1899_1904dup	ENSP00000385844.1:p.Ser634_Lys635insAsnSer
ENST00000423156.1:c.1058-10243_1058-10238dup	ENSP00000390925.1:n.1058-10243_1058-10238dup
ENST00000455470.5:c.2129+1718_2129+1723dup
NM_001278055.1:c.3708_3713dup	NP_001264984.1:p.Ser1237_Lys1238insAsnSer
NM_014363.5:c.4149_4154dup	NP_055178.3:p.Ser1384_Lys1385insAsnSer
XM_005266338.1:c.4176_4181dup	XP_005266395.1:p.Ser1393_Lys1394insAsnSer
XM_011535038.1:c.4200_4205dup	XP_011533340.1:p.Ser1401_Lys1402insAsnSer
XM_011535039.1:c.4167_4172dup	XP_011533341.1:p.Ser1390_Lys1391insAsnSer
XM_005266338.2:c.4176_4181dup	XP_005266395.1:p.Ser1393_Lys1394insAsnSer
XM_011535039.2:c.4167_4172dup	XP_011533341.1:p.Ser1390_Lys1391insAsnSer
XM_017020539.1:c.4140_4145dup	XP_016876028.1:p.Ser1381_Lys1382insAsnSer
XM_024449337.1:c.4176_4181dup	XP_024305105.1:p.Ser1393_Lys1394insAsnSer
NM_014363.6:c.4149_4154dup MANE Select	NP_055178.3:p.Ser1384_Lys1385insAsnSer
NM_001278055.2:c.3708_3713dup	NP_001264984.1:p.Ser1237_Lys1238insAsnSer