Canonical Allele Identifier: CA2078640948

Gene: SACS

Linked Data

• dbSNP Id: rs1869014964

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23339707dup , CM000675.2:g.23339707dup	GRCh38
NC_000013.10:g.23913846dup , CM000675.1:g.23913846dup	GRCh37
NC_000013.9:g.22811846dup	NCBI36
NG_012342.1:g.98997dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+14079dup	ENSP00000508399.1:n.2185+14079dup
ENST00000682944.1:c.4197dup	ENSP00000507173.1:p.Ile1400TyrfsTer12
ENST00000683210.1:c.2185+14079dup	ENSP00000506739.1:n.2185+14079dup
ENST00000683270.1:c.4161dup	ENSP00000507624.1:p.Ile1388TyrfsTer12
ENST00000683367.1:c.2177-10222dup	ENSP00000507780.1:n.2177-10222dup
ENST00000683489.1:c.2291+1879dup	ENSP00000508403.1:n.2291+1879dup
ENST00000683680.1:c.2318+1879dup	ENSP00000507223.1:n.2318+1879dup
ENST00000684163.1:c.2203+7105dup	ENSP00000508262.1:n.2203+7105dup
ENST00000684196.1:n.4543-10222dup
ENST00000684325.1:c.2185+14079dup	ENSP00000508121.1:n.2185+14079dup
ENST00000684385.1:c.2220+7105dup	ENSP00000507855.1:n.2220+7105dup
ENST00000684497.1:c.2185+14079dup	ENSP00000507057.1:n.2185+14079dup
ENST00000382292.9:c.4170dup MANE Select	ENSP00000371729.3:p.Ile1391TyrfsTer12
ENST00000423156.2:c.2186-10222dup	ENSP00000390925.2:n.2186-10222dup
ENST00000455470.6:c.2431+1739dup	ENSP00000406565.2:n.2431+1739dup
ENST00000382292.7:c.4170dup	ENSP00000371729.3:p.Ile1391TyrfsTer12
ENST00000382298.7:c.4170dup	ENSP00000371735.3:p.Ile1391TyrfsTer12
ENST00000402364.1:c.1920dup	ENSP00000385844.1:p.Ile641TyrfsTer12
ENST00000423156.1:c.1058-10222dup	ENSP00000390925.1:n.1058-10222dup
ENST00000455470.5:c.2129+1739dup
NM_001278055.1:c.3729dup	NP_001264984.1:p.Ile1244TyrfsTer12
NM_014363.5:c.4170dup	NP_055178.3:p.Ile1391TyrfsTer12
XM_005266338.1:c.4197dup	XP_005266395.1:p.Ile1400TyrfsTer12
XM_011535038.1:c.4221dup	XP_011533340.1:p.Ile1408TyrfsTer12
XM_011535039.1:c.4188dup	XP_011533341.1:p.Ile1397TyrfsTer12
XM_005266338.2:c.4197dup	XP_005266395.1:p.Ile1400TyrfsTer12
XM_011535039.2:c.4188dup	XP_011533341.1:p.Ile1397TyrfsTer12
XM_017020539.1:c.4161dup	XP_016876028.1:p.Ile1388TyrfsTer12
XM_024449337.1:c.4197dup	XP_024305105.1:p.Ile1400TyrfsTer12
NM_014363.6:c.4170dup MANE Select	NP_055178.3:p.Ile1391TyrfsTer12
NM_001278055.2:c.3729dup	NP_001264984.1:p.Ile1244TyrfsTer12