Canonical Allele Identifier: CA2580086906
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2029909
ClinVar RCV Id: RCV002881058

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336354_23336360dup , CM000675.2:g.23336354_23336360dup GRCh38
NC_000013.10:g.23910493_23910499dup , CM000675.1:g.23910493_23910499dup GRCh37
NC_000013.9:g.22808493_22808499dup NCBI36
NG_012342.1:g.102343_102349dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17425_2185+17431dup ENSP00000508399.1:n.2185+17425_2185+17431...
ENST00000682944.1:c.7543_7549dup ENSP00000507173.1:p.Arg2517IlefsTer28
ENST00000683210.1:c.2185+17425_2185+17431dup ENSP00000506739.1:n.2185+17425_2185+17431...
ENST00000683270.1:c.6445+1062_6445+1068dup ENSP00000507624.1:n.6445+1062_6445+1068du...
ENST00000683367.1:c.2177-6876_2177-6870dup ENSP00000507780.1:n.2177-6876_2177-6870du...
ENST00000683489.1:c.2291+5225_2291+5231dup ENSP00000508403.1:n.2291+5225_2291+5231du...
ENST00000683680.1:c.2318+5225_2318+5231dup ENSP00000507223.1:n.2318+5225_2318+5231du...
ENST00000684163.1:c.2204-6876_2204-6870dup ENSP00000508262.1:n.2204-6876_2204-6870du...
ENST00000684196.1:n.4543-6876_4543-6870dup
ENST00000684325.1:c.2186-14686_2186-14680dup ENSP00000508121.1:n.2186-14686_2186-14680...
ENST00000684385.1:c.2221-6876_2221-6870dup ENSP00000507855.1:n.2221-6876_2221-6870du...
ENST00000684497.1:c.2186-13716_2186-13710dup ENSP00000507057.1:n.2186-13716_2186-13710...
ENST00000382292.9:c.7516_7522dup MANE Select ENSP00000371729.3:p.Arg2508IlefsTer28
ENST00000423156.2:c.2186-6876_2186-6870dup ENSP00000390925.2:n.2186-6876_2186-6870du...
ENST00000455470.6:c.2431+5085_2431+5091dup ENSP00000406565.2:n.2431+5085_2431+5091du...
ENST00000382292.7:c.7516_7522dup ENSP00000371729.3:p.Arg2508IlefsTer28
ENST00000382298.7:c.7516_7522dup ENSP00000371735.3:p.Arg2508IlefsTer28
ENST00000402364.1:c.5266_5272dup ENSP00000385844.1:p.Arg1758IlefsTer28
ENST00000423156.1:c.1058-6876_1058-6870dup ENSP00000390925.1:n.1058-6876_1058-6870du...
ENST00000455470.5:c.2129+5085_2129+5091dup
NM_001278055.1:c.7075_7081dup NP_001264984.1:p.Arg2361IlefsTer28
NM_014363.5:c.7516_7522dup NP_055178.3:p.Arg2508IlefsTer28
XM_005266338.1:c.7543_7549dup XP_005266395.1:p.Arg2517IlefsTer28
XM_011535038.1:c.7567_7573dup XP_011533340.1:p.Arg2525IlefsTer28
XM_011535039.1:c.7534_7540dup XP_011533341.1:p.Arg2514IlefsTer28
XM_005266338.2:c.7543_7549dup XP_005266395.1:p.Arg2517IlefsTer28
XM_011535039.2:c.7534_7540dup XP_011533341.1:p.Arg2514IlefsTer28
XM_017020539.1:c.7507_7513dup XP_016876028.1:p.Arg2505IlefsTer28
XM_024449337.1:c.7543_7549dup XP_024305105.1:p.Arg2517IlefsTer28
NM_014363.6:c.7516_7522dup MANE Select NP_055178.3:p.Arg2508IlefsTer28
NM_001278055.2:c.7075_7081dup NP_001264984.1:p.Arg2361IlefsTer28