Canonical Allele Identifier: CA16041620
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371666
ClinVar RCV Id: RCV000410317
dbSNP Id: rs1057517451

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336375_23336385del , CM000675.2:g.23336375_23336385del GRCh38
NC_000013.10:g.23910514_23910524del , CM000675.1:g.23910514_23910524del GRCh37
NC_000013.9:g.22808514_22808524del NCBI36
NG_012342.1:g.102321_102331del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+17403_2185+17413del ENSP00000508399.1:n.2185+17403_2185+17413...
ENST00000682944.1:c.7521_7531del ENSP00000507173.1:p.Val2508ThrfsTer?
ENST00000683210.1:c.2185+17403_2185+17413del ENSP00000506739.1:n.2185+17403_2185+17413...
ENST00000683270.1:c.6445+1040_6445+1050del ENSP00000507624.1:n.6445+1040_6445+1050de...
ENST00000683367.1:c.2177-6898_2177-6888del ENSP00000507780.1:n.2177-6898_2177-6888de...
ENST00000683489.1:c.2291+5203_2291+5213del ENSP00000508403.1:n.2291+5203_2291+5213de...
ENST00000683680.1:c.2318+5203_2318+5213del ENSP00000507223.1:n.2318+5203_2318+5213de...
ENST00000684163.1:c.2204-6898_2204-6888del ENSP00000508262.1:n.2204-6898_2204-6888de...
ENST00000684196.1:n.4543-6898_4543-6888del
ENST00000684325.1:c.2186-14708_2186-14698del ENSP00000508121.1:n.2186-14708_2186-14698...
ENST00000684385.1:c.2221-6898_2221-6888del ENSP00000507855.1:n.2221-6898_2221-6888de...
ENST00000684497.1:c.2186-13738_2186-13728del ENSP00000507057.1:n.2186-13738_2186-13728...
ENST00000382292.9:c.7494_7504del MANE Select ENSP00000371729.3:p.Val2499ThrfsTer?
ENST00000423156.2:c.2186-6898_2186-6888del ENSP00000390925.2:n.2186-6898_2186-6888de...
ENST00000455470.6:c.2431+5063_2431+5073del ENSP00000406565.2:n.2431+5063_2431+5073de...
ENST00000382292.7:c.7494_7504del ENSP00000371729.3:p.Val2499ThrfsTer?
ENST00000382298.7:c.7494_7504del ENSP00000371735.3:p.Val2499ThrfsTer?
ENST00000402364.1:c.5244_5254del ENSP00000385844.1:p.Val1749ThrfsTer?
ENST00000423156.1:c.1058-6898_1058-6888del ENSP00000390925.1:n.1058-6898_1058-6888de...
ENST00000455470.5:c.2129+5063_2129+5073del
NM_001278055.1:c.7053_7063del NP_001264984.1:p.Val2352ThrfsTer?
NM_014363.5:c.7494_7504del NP_055178.3:p.Val2499ThrfsTer?
XM_005266338.1:c.7521_7531del XP_005266395.1:p.Val2508ThrfsTer?
XM_011535038.1:c.7545_7555del XP_011533340.1:p.Val2516ThrfsTer?
XM_011535039.1:c.7512_7522del XP_011533341.1:p.Val2505ThrfsTer?
XM_005266338.2:c.7521_7531del XP_005266395.1:p.Val2508ThrfsTer?
XM_011535039.2:c.7512_7522del XP_011533341.1:p.Val2505ThrfsTer?
XM_017020539.1:c.7485_7495del XP_016876028.1:p.Val2496ThrfsTer?
XM_024449337.1:c.7521_7531del XP_024305105.1:p.Val2508ThrfsTer?
NM_014363.6:c.7494_7504del MANE Select NP_055178.3:p.Val2499ThrfsTer?
NM_001278055.2:c.7053_7063del NP_001264984.1:p.Val2352ThrfsTer?