Canonical Allele Identifier: CA658658232
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448217
dbSNP Id: rs1555251539

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336713_23336714del , CM000675.2:g.23336713_23336714del GRCh38
NC_000013.10:g.23910852_23910853del , CM000675.1:g.23910852_23910853del GRCh37
NC_000013.9:g.22808852_22808853del NCBI36
NG_012342.1:g.101989_101990del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17071_2185+17072del ENSP00000508399.1:n.2185+17071_2185+17072...
ENST00000682944.1:c.7189_7190del ENSP00000507173.1:p.Thr2397ArgfsTer10
ENST00000683210.1:c.2185+17071_2185+17072del ENSP00000506739.1:n.2185+17071_2185+17072...
ENST00000683270.1:c.6445+708_6445+709del ENSP00000507624.1:n.6445+708_6445+709del
ENST00000683367.1:c.2177-7230_2177-7229del ENSP00000507780.1:n.2177-7230_2177-7229de...
ENST00000683489.1:c.2291+4871_2291+4872del ENSP00000508403.1:n.2291+4871_2291+4872de...
ENST00000683680.1:c.2318+4871_2318+4872del ENSP00000507223.1:n.2318+4871_2318+4872de...
ENST00000684163.1:c.2204-7230_2204-7229del ENSP00000508262.1:n.2204-7230_2204-7229de...
ENST00000684196.1:n.4543-7230_4543-7229del
ENST00000684325.1:c.2186-15040_2186-15039del ENSP00000508121.1:n.2186-15040_2186-15039...
ENST00000684385.1:c.2221-7230_2221-7229del ENSP00000507855.1:n.2221-7230_2221-7229de...
ENST00000684497.1:c.2186-14070_2186-14069del ENSP00000507057.1:n.2186-14070_2186-14069...
ENST00000382292.9:c.7162_7163del MANE Select ENSP00000371729.3:p.Thr2388ArgfsTer10
ENST00000423156.2:c.2186-7230_2186-7229del ENSP00000390925.2:n.2186-7230_2186-7229de...
ENST00000455470.6:c.2431+4731_2431+4732del ENSP00000406565.2:n.2431+4731_2431+4732de...
ENST00000382292.7:c.7162_7163del ENSP00000371729.3:p.Thr2388ArgfsTer10
ENST00000382298.7:c.7162_7163del ENSP00000371735.3:p.Thr2388ArgfsTer10
ENST00000402364.1:c.4912_4913del ENSP00000385844.1:p.Thr1638ArgfsTer10
ENST00000423156.1:c.1058-7230_1058-7229del ENSP00000390925.1:n.1058-7230_1058-7229de...
ENST00000455470.5:c.2129+4731_2129+4732del
NM_001278055.1:c.6721_6722del NP_001264984.1:p.Thr2241ArgfsTer10
NM_014363.5:c.7162_7163del NP_055178.3:p.Thr2388ArgfsTer10
XM_005266338.1:c.7189_7190del XP_005266395.1:p.Thr2397ArgfsTer10
XM_011535038.1:c.7213_7214del XP_011533340.1:p.Thr2405ArgfsTer10
XM_011535039.1:c.7180_7181del XP_011533341.1:p.Thr2394ArgfsTer10
XM_005266338.2:c.7189_7190del XP_005266395.1:p.Thr2397ArgfsTer10
XM_011535039.2:c.7180_7181del XP_011533341.1:p.Thr2394ArgfsTer10
XM_017020539.1:c.7153_7154del XP_016876028.1:p.Thr2385ArgfsTer10
XM_024449337.1:c.7189_7190del XP_024305105.1:p.Thr2397ArgfsTer10
NM_014363.6:c.7162_7163del MANE Select NP_055178.3:p.Thr2388ArgfsTer10
NM_001278055.2:c.6721_6722del NP_001264984.1:p.Thr2241ArgfsTer10