Canonical Allele Identifier: CA277338
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 212110
ClinVar RCV Id: RCV000194514
dbSNP Id: rs797045936
MyVariant Identifiers: chr13:g.23904488dupT (hg19) chr13:g.23904487_23904488insT (hg19) chr13:g.23330349dupT (hg38) chr13:g.23330348_23330349insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330349dup , CM000675.2:g.23330349dup GRCh38
NC_000013.10:g.23904488dup , CM000675.1:g.23904488dup GRCh37
NC_000013.9:g.22802488dup NCBI36
NG_012342.1:g.108354dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18234dup ENSP00000508399.1:n.2186-18234dup
ENST00000682944.1:c.13554dup ENSP00000507173.1:p.Glu4519ArgfsTer4
ENST00000683210.1:c.2185+23436dup ENSP00000506739.1:n.2185+23436dup
ENST00000683270.1:c.6446-865dup ENSP00000507624.1:n.6446-865dup
ENST00000683367.1:c.2177-865dup ENSP00000507780.1:n.2177-865dup
ENST00000683489.1:c.2292-397dup ENSP00000508403.1:n.2292-397dup
ENST00000683680.1:c.2319-397dup ENSP00000507223.1:n.2319-397dup
ENST00000684163.1:c.2204-865dup ENSP00000508262.1:n.2204-865dup
ENST00000684196.1:n.4543-865dup
ENST00000684325.1:c.2186-8675dup ENSP00000508121.1:n.2186-8675dup
ENST00000684385.1:c.2221-865dup ENSP00000507855.1:n.2221-865dup
ENST00000684497.1:c.2186-7705dup ENSP00000507057.1:n.2186-7705dup
ENST00000382292.9:c.13527dup MANE Select ENSP00000371729.3:p.Glu4510ArgfsTer4
ENST00000423156.2:c.2186-865dup ENSP00000390925.2:n.2186-865dup
ENST00000455470.6:c.2432-865dup ENSP00000406565.2:n.2432-865dup
ENST00000382292.7:c.13527dup ENSP00000371729.3:p.Glu4510ArgfsTer4
ENST00000382298.7:c.13527dup ENSP00000371735.3:p.Glu4510ArgfsTer4
ENST00000402364.1:c.11277dup ENSP00000385844.1:p.Glu3760ArgfsTer4
ENST00000423156.1:c.1058-865dup ENSP00000390925.1:n.1058-865dup
ENST00000455470.5:c.2130-865dup
NM_001278055.1:c.13086dup NP_001264984.1:p.Glu4363ArgfsTer4
NM_014363.5:c.13527dup NP_055178.3:p.Glu4510ArgfsTer4
XM_005266338.1:c.13554dup XP_005266395.1:p.Glu4519ArgfsTer4
XM_011535038.1:c.13578dup XP_011533340.1:p.Glu4527ArgfsTer4
XM_011535039.1:c.13545dup XP_011533341.1:p.Glu4516ArgfsTer4
XM_005266338.2:c.13554dup XP_005266395.1:p.Glu4519ArgfsTer4
XM_011535039.2:c.13545dup XP_011533341.1:p.Glu4516ArgfsTer4
XM_017020539.1:c.13518dup XP_016876028.1:p.Glu4507ArgfsTer4
XM_024449337.1:c.13554dup XP_024305105.1:p.Glu4519ArgfsTer4
NM_014363.6:c.13527dup MANE Select NP_055178.3:p.Glu4510ArgfsTer4
NM_001278055.2:c.13086dup NP_001264984.1:p.Glu4363ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'