Canonical Allele Identifier: CA2078625304

Gene: SACS

Linked Data

• dbSNP Id: rs1868595620

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336370_23336398dup , CM000675.2:g.23336370_23336398dup	GRCh38
NC_000013.10:g.23910509_23910537dup , CM000675.1:g.23910509_23910537dup	GRCh37
NC_000013.9:g.22808509_22808537dup	NCBI36
NG_012342.1:g.102307_102335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17389_2185+17417dup	ENSP00000508399.1:n.2185+17389_2185+17417dup
ENST00000682944.1:c.7507_7535dup	ENSP00000507173.1:p.His2512GlnfsTer2
ENST00000683210.1:c.2185+17389_2185+17417dup	ENSP00000506739.1:n.2185+17389_2185+17417dup
ENST00000683270.1:c.6445+1026_6445+1054dup	ENSP00000507624.1:n.6445+1026_6445+1054dup
ENST00000683367.1:c.2177-6912_2177-6884dup	ENSP00000507780.1:n.2177-6912_2177-6884dup
ENST00000683489.1:c.2291+5189_2291+5217dup	ENSP00000508403.1:n.2291+5189_2291+5217dup
ENST00000683680.1:c.2318+5189_2318+5217dup	ENSP00000507223.1:n.2318+5189_2318+5217dup
ENST00000684163.1:c.2204-6912_2204-6884dup	ENSP00000508262.1:n.2204-6912_2204-6884dup
ENST00000684196.1:n.4543-6912_4543-6884dup
ENST00000684325.1:c.2186-14722_2186-14694dup	ENSP00000508121.1:n.2186-14722_2186-14694dup
ENST00000684385.1:c.2221-6912_2221-6884dup	ENSP00000507855.1:n.2221-6912_2221-6884dup
ENST00000684497.1:c.2186-13752_2186-13724dup	ENSP00000507057.1:n.2186-13752_2186-13724dup
ENST00000382292.9:c.7480_7508dup MANE Select	ENSP00000371729.3:p.His2503GlnfsTer2
ENST00000423156.2:c.2186-6912_2186-6884dup	ENSP00000390925.2:n.2186-6912_2186-6884dup
ENST00000455470.6:c.2431+5049_2431+5077dup	ENSP00000406565.2:n.2431+5049_2431+5077dup
ENST00000382292.7:c.7480_7508dup	ENSP00000371729.3:p.His2503GlnfsTer2
ENST00000382298.7:c.7480_7508dup	ENSP00000371735.3:p.His2503GlnfsTer2
ENST00000402364.1:c.5230_5258dup	ENSP00000385844.1:p.His1753GlnfsTer2
ENST00000423156.1:c.1058-6912_1058-6884dup	ENSP00000390925.1:n.1058-6912_1058-6884dup
ENST00000455470.5:c.2129+5049_2129+5077dup
NM_001278055.1:c.7039_7067dup	NP_001264984.1:p.His2356GlnfsTer2
NM_014363.5:c.7480_7508dup	NP_055178.3:p.His2503GlnfsTer2
XM_005266338.1:c.7507_7535dup	XP_005266395.1:p.His2512GlnfsTer2
XM_011535038.1:c.7531_7559dup	XP_011533340.1:p.His2520GlnfsTer2
XM_011535039.1:c.7498_7526dup	XP_011533341.1:p.His2509GlnfsTer2
XM_005266338.2:c.7507_7535dup	XP_005266395.1:p.His2512GlnfsTer2
XM_011535039.2:c.7498_7526dup	XP_011533341.1:p.His2509GlnfsTer2
XM_017020539.1:c.7471_7499dup	XP_016876028.1:p.His2500GlnfsTer2
XM_024449337.1:c.7507_7535dup	XP_024305105.1:p.His2512GlnfsTer2
NM_014363.6:c.7480_7508dup MANE Select	NP_055178.3:p.His2503GlnfsTer2
NM_001278055.2:c.7039_7067dup	NP_001264984.1:p.His2356GlnfsTer2