Canonical Allele Identifier: CA16041655
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371078
dbSNP Id: rs1057516987

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355475dup , CM000675.2:g.23355475dup GRCh38
NC_000013.10:g.23929614dup , CM000675.1:g.23929614dup GRCh37
NC_000013.9:g.22827614dup NCBI36
NG_012342.1:g.83228dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.1137dup ENSP00000508399.1:p.Glu380ArgfsTer6
ENST00000682944.1:c.1137dup ENSP00000507173.1:p.Glu380ArgfsTer6
ENST00000683154.1:n.1275dup
ENST00000683210.1:c.1137dup ENSP00000506739.1:p.Glu380ArgfsTer6
ENST00000683270.1:c.1128dup ENSP00000507624.1:p.Glu377ArgfsTer6
ENST00000683367.1:c.1128dup ENSP00000507780.1:p.Glu377ArgfsTer6
ENST00000683489.1:c.1137dup ENSP00000508403.1:p.Glu380ArgfsTer6
ENST00000683680.1:c.1137dup ENSP00000507223.1:p.Glu380ArgfsTer6
ENST00000684163.1:c.1128dup ENSP00000508262.1:p.Glu377ArgfsTer6
ENST00000684196.1:n.3494dup
ENST00000684325.1:c.1137dup ENSP00000508121.1:p.Glu380ArgfsTer6
ENST00000684385.1:c.1137dup ENSP00000507855.1:p.Glu380ArgfsTer6
ENST00000684497.1:c.1137dup ENSP00000507057.1:p.Glu380ArgfsTer6
ENST00000382292.9:c.1137dup MANE Select ENSP00000371729.3:p.Glu380ArgfsTer6
ENST00000423156.2:c.1137dup ENSP00000390925.2:p.Glu380ArgfsTer6
ENST00000455470.6:c.1137dup ENSP00000406565.2:p.Glu380ArgfsTer6
ENST00000382292.7:c.1137dup ENSP00000371729.3:p.Glu380ArgfsTer6
ENST00000382298.7:c.1137dup ENSP00000371735.3:p.Glu380ArgfsTer6
ENST00000402364.1:c.-1114dup ENSP00000385844.1:n.-1114dup
ENST00000423156.1:c.9dup ENSP00000390925.1:p.Glu4ArgfsTer6
ENST00000455470.5:c.835dup
NM_001278055.1:c.696dup NP_001264984.1:p.Glu233ArgfsTer6
NM_014363.5:c.1137dup NP_055178.3:p.Glu380ArgfsTer6
XM_005266338.1:c.1137dup XP_005266395.1:p.Glu380ArgfsTer6
XM_011535038.1:c.1161dup XP_011533340.1:p.Glu388ArgfsTer6
XM_011535039.1:c.1128dup XP_011533341.1:p.Glu377ArgfsTer6
XM_005266338.2:c.1137dup XP_005266395.1:p.Glu380ArgfsTer6
XM_011535039.2:c.1128dup XP_011533341.1:p.Glu377ArgfsTer6
XM_017020539.1:c.1128dup XP_016876028.1:p.Glu377ArgfsTer6
XM_024449337.1:c.1137dup XP_024305105.1:p.Glu380ArgfsTer6
NM_014363.6:c.1137dup MANE Select NP_055178.3:p.Glu380ArgfsTer6
NM_001278055.2:c.696dup NP_001264984.1:p.Glu233ArgfsTer6