Canonical Allele Identifier: CA16041603
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370905
ClinVar RCV Id: RCV000410800
dbSNP Id: rs1057516856
MyVariant Identifiers: chr13:g.23906934dupC (hg19) chr13:g.23906933_23906934insC (hg19) chr13:g.23332795dupC (hg38) chr13:g.23332794_23332795insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23332795dup , CM000675.2:g.23332795dup GRCh38
NC_000013.10:g.23906934dup , CM000675.1:g.23906934dup GRCh37
NC_000013.9:g.22804934dup NCBI36
NG_012342.1:g.105908dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-20680dup ENSP00000508399.1:n.2186-20680dup
ENST00000682944.1:c.11108dup ENSP00000507173.1:p.Cys3703TrpfsTer2
ENST00000683210.1:c.2185+20990dup ENSP00000506739.1:n.2185+20990dup
ENST00000683270.1:c.6446-3311dup ENSP00000507624.1:n.6446-3311dup
ENST00000683367.1:c.2177-3311dup ENSP00000507780.1:n.2177-3311dup
ENST00000683489.1:c.2292-2843dup ENSP00000508403.1:n.2292-2843dup
ENST00000683680.1:c.2319-2843dup ENSP00000507223.1:n.2319-2843dup
ENST00000684163.1:c.2204-3311dup ENSP00000508262.1:n.2204-3311dup
ENST00000684196.1:n.4543-3311dup
ENST00000684325.1:c.2186-11121dup ENSP00000508121.1:n.2186-11121dup
ENST00000684385.1:c.2221-3311dup ENSP00000507855.1:n.2221-3311dup
ENST00000684497.1:c.2186-10151dup ENSP00000507057.1:n.2186-10151dup
ENST00000382292.9:c.11081dup MANE Select ENSP00000371729.3:p.Cys3694TrpfsTer2
ENST00000423156.2:c.2186-3311dup ENSP00000390925.2:n.2186-3311dup
ENST00000455470.6:c.2432-3311dup ENSP00000406565.2:n.2432-3311dup
ENST00000382292.7:c.11081dup ENSP00000371729.3:p.Cys3694TrpfsTer2
ENST00000382298.7:c.11081dup ENSP00000371735.3:p.Cys3694TrpfsTer2
ENST00000402364.1:c.8831dup ENSP00000385844.1:p.Cys2944TrpfsTer2
ENST00000423156.1:c.1058-3311dup ENSP00000390925.1:n.1058-3311dup
ENST00000455470.5:c.2130-3311dup
NM_001278055.1:c.10640dup NP_001264984.1:p.Cys3547TrpfsTer2
NM_014363.5:c.11081dup NP_055178.3:p.Cys3694TrpfsTer2
XM_005266338.1:c.11108dup XP_005266395.1:p.Cys3703TrpfsTer2
XM_011535038.1:c.11132dup XP_011533340.1:p.Cys3711TrpfsTer2
XM_011535039.1:c.11099dup XP_011533341.1:p.Cys3700TrpfsTer2
XM_005266338.2:c.11108dup XP_005266395.1:p.Cys3703TrpfsTer2
XM_011535039.2:c.11099dup XP_011533341.1:p.Cys3700TrpfsTer2
XM_017020539.1:c.11072dup XP_016876028.1:p.Cys3691TrpfsTer2
XM_024449337.1:c.11108dup XP_024305105.1:p.Cys3703TrpfsTer2
NM_014363.6:c.11081dup MANE Select NP_055178.3:p.Cys3694TrpfsTer2
NM_001278055.2:c.10640dup NP_001264984.1:p.Cys3547TrpfsTer2
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