Canonical Allele Identifier: CA16041646
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370869
ClinVar RCV Id: RCV000410288
dbSNP Id: rs1057516829

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23341248_23341249dup , CM000675.2:g.23341248_23341249dup GRCh38
NC_000013.10:g.23915387_23915388dup , CM000675.1:g.23915387_23915388dup GRCh37
NC_000013.9:g.22813387_22813388dup NCBI36
NG_012342.1:g.97456_97457dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12538_2185+12539dup ENSP00000508399.1:n.2185+12538_2185+12539...
ENST00000682944.1:c.2656_2657dup ENSP00000507173.1:p.Leu886PhefsTer4
ENST00000683210.1:c.2185+12538_2185+12539dup ENSP00000506739.1:n.2185+12538_2185+12539...
ENST00000683270.1:c.2620_2621dup ENSP00000507624.1:p.Leu874PhefsTer4
ENST00000683367.1:c.2177-11763_2177-11762dup ENSP00000507780.1:n.2177-11763_2177-11762...
ENST00000683489.1:c.2291+338_2291+339dup ENSP00000508403.1:n.2291+338_2291+339dup
ENST00000683680.1:c.2318+338_2318+339dup ENSP00000507223.1:n.2318+338_2318+339dup
ENST00000684163.1:c.2203+5564_2203+5565dup ENSP00000508262.1:n.2203+5564_2203+5565du...
ENST00000684196.1:n.4543-11763_4543-11762dup
ENST00000684325.1:c.2185+12538_2185+12539dup ENSP00000508121.1:n.2185+12538_2185+12539...
ENST00000684385.1:c.2220+5564_2220+5565dup ENSP00000507855.1:n.2220+5564_2220+5565du...
ENST00000684497.1:c.2185+12538_2185+12539dup ENSP00000507057.1:n.2185+12538_2185+12539...
ENST00000382292.9:c.2629_2630dup MANE Select ENSP00000371729.3:p.Leu877PhefsTer4
ENST00000423156.2:c.2186-11763_2186-11762dup ENSP00000390925.2:n.2186-11763_2186-11762...
ENST00000455470.6:c.2431+198_2431+199dup ENSP00000406565.2:n.2431+198_2431+199dup
ENST00000382292.7:c.2629_2630dup ENSP00000371729.3:p.Leu877PhefsTer4
ENST00000382298.7:c.2629_2630dup ENSP00000371735.3:p.Leu877PhefsTer4
ENST00000402364.1:c.379_380dup ENSP00000385844.1:p.Leu127PhefsTer4
ENST00000423156.1:c.1058-11763_1058-11762dup ENSP00000390925.1:n.1058-11763_1058-11762...
ENST00000455470.5:c.2129+198_2129+199dup
NM_001278055.1:c.2188_2189dup NP_001264984.1:p.Leu730PhefsTer4
NM_014363.5:c.2629_2630dup NP_055178.3:p.Leu877PhefsTer4
XM_005266338.1:c.2656_2657dup XP_005266395.1:p.Leu886PhefsTer4
XM_011535038.1:c.2680_2681dup XP_011533340.1:p.Leu894PhefsTer4
XM_011535039.1:c.2647_2648dup XP_011533341.1:p.Leu883PhefsTer4
XM_005266338.2:c.2656_2657dup XP_005266395.1:p.Leu886PhefsTer4
XM_011535039.2:c.2647_2648dup XP_011533341.1:p.Leu883PhefsTer4
XM_017020539.1:c.2620_2621dup XP_016876028.1:p.Leu874PhefsTer4
XM_024449337.1:c.2656_2657dup XP_024305105.1:p.Leu886PhefsTer4
NM_014363.6:c.2629_2630dup MANE Select NP_055178.3:p.Leu877PhefsTer4
NM_001278055.2:c.2188_2189dup NP_001264984.1:p.Leu730PhefsTer4