Canonical Allele Identifier: CA16041625
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371002
ClinVar RCV Id: RCV003750786
dbSNP Id: rs1057516932
MyVariant Identifiers: chr13:g.23911258dupT (hg19) chr13:g.23911257_23911258insT (hg19) chr13:g.23337119dupT (hg38) chr13:g.23337118_23337119insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337119dup , CM000675.2:g.23337119dup GRCh38
NC_000013.10:g.23911258dup , CM000675.1:g.23911258dup GRCh37
NC_000013.9:g.22809258dup NCBI36
NG_012342.1:g.101584dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16666dup ENSP00000508399.1:n.2185+16666dup
ENST00000682944.1:c.6784dup ENSP00000507173.1:p.Ile2262AsnfsTer11
ENST00000683210.1:c.2185+16666dup ENSP00000506739.1:n.2185+16666dup
ENST00000683270.1:c.6445+303dup ENSP00000507624.1:n.6445+303dup
ENST00000683367.1:c.2177-7635dup ENSP00000507780.1:n.2177-7635dup
ENST00000683489.1:c.2291+4466dup ENSP00000508403.1:n.2291+4466dup
ENST00000683680.1:c.2318+4466dup ENSP00000507223.1:n.2318+4466dup
ENST00000684163.1:c.2204-7635dup ENSP00000508262.1:n.2204-7635dup
ENST00000684196.1:n.4543-7635dup
ENST00000684325.1:c.2186-15445dup ENSP00000508121.1:n.2186-15445dup
ENST00000684385.1:c.2221-7635dup ENSP00000507855.1:n.2221-7635dup
ENST00000684497.1:c.2186-14475dup ENSP00000507057.1:n.2186-14475dup
ENST00000382292.9:c.6757dup MANE Select ENSP00000371729.3:p.Ile2253AsnfsTer11
ENST00000423156.2:c.2186-7635dup ENSP00000390925.2:n.2186-7635dup
ENST00000455470.6:c.2431+4326dup ENSP00000406565.2:n.2431+4326dup
ENST00000382292.7:c.6757dup ENSP00000371729.3:p.Ile2253AsnfsTer11
ENST00000382298.7:c.6757dup ENSP00000371735.3:p.Ile2253AsnfsTer11
ENST00000402364.1:c.4507dup ENSP00000385844.1:p.Ile1503AsnfsTer11
ENST00000423156.1:c.1058-7635dup ENSP00000390925.1:n.1058-7635dup
ENST00000455470.5:c.2129+4326dup
NM_001278055.1:c.6316dup NP_001264984.1:p.Ile2106AsnfsTer11
NM_014363.5:c.6757dup NP_055178.3:p.Ile2253AsnfsTer11
XM_005266338.1:c.6784dup XP_005266395.1:p.Ile2262AsnfsTer11
XM_011535038.1:c.6808dup XP_011533340.1:p.Ile2270AsnfsTer11
XM_011535039.1:c.6775dup XP_011533341.1:p.Ile2259AsnfsTer11
XM_005266338.2:c.6784dup XP_005266395.1:p.Ile2262AsnfsTer11
XM_011535039.2:c.6775dup XP_011533341.1:p.Ile2259AsnfsTer11
XM_017020539.1:c.6748dup XP_016876028.1:p.Ile2250AsnfsTer11
XM_024449337.1:c.6784dup XP_024305105.1:p.Ile2262AsnfsTer11
NM_014363.6:c.6757dup MANE Select NP_055178.3:p.Ile2253AsnfsTer11
NM_001278055.2:c.6316dup NP_001264984.1:p.Ile2106AsnfsTer11
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