Canonical Allele Identifier: CA16041652
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370332
ClinVar RCV Id: RCV000409220
dbSNP Id: rs1057516406
MyVariant Identifiers: chr13:g.23929474_23929475dupAA (hg19) chr13:g.23929473_23929474insAA (hg19) chr13:g.23355335_23355336dupAA (hg38) chr13:g.23355334_23355335insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355336_23355337dup , CM000675.2:g.23355336_23355337dup GRCh38
NC_000013.10:g.23929475_23929476dup , CM000675.1:g.23929475_23929476dup GRCh37
NC_000013.9:g.22827475_22827476dup NCBI36
NG_012342.1:g.83367_83368dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.1276_1277dup ENSP00000508399.1:p.Leu426PhefsTer?
ENST00000682944.1:c.1276_1277dup ENSP00000507173.1:p.Leu426PhefsTer?
ENST00000683154.1:n.1414_1415dup
ENST00000683210.1:c.1276_1277dup ENSP00000506739.1:p.Leu426PhefsTer?
ENST00000683270.1:c.1267_1268dup ENSP00000507624.1:p.Leu423PhefsTer?
ENST00000683367.1:c.1267_1268dup ENSP00000507780.1:p.Leu423PhefsTer?
ENST00000683489.1:c.1276_1277dup ENSP00000508403.1:p.Leu426PhefsTer?
ENST00000683680.1:c.1276_1277dup ENSP00000507223.1:p.Leu426PhefsTer?
ENST00000684163.1:c.1267_1268dup ENSP00000508262.1:p.Leu423PhefsTer?
ENST00000684196.1:n.3633_3634dup
ENST00000684325.1:c.1276_1277dup ENSP00000508121.1:p.Leu426PhefsTer?
ENST00000684385.1:c.1276_1277dup ENSP00000507855.1:p.Leu426PhefsTer?
ENST00000684497.1:c.1276_1277dup ENSP00000507057.1:p.Leu426PhefsTer?
ENST00000382292.9:c.1276_1277dup MANE Select ENSP00000371729.3:p.Leu426PhefsTer?
ENST00000423156.2:c.1276_1277dup ENSP00000390925.2:p.Leu426PhefsTer?
ENST00000455470.6:c.1276_1277dup ENSP00000406565.2:p.Leu426PhefsTer?
ENST00000382292.7:c.1276_1277dup ENSP00000371729.3:p.Leu426PhefsTer?
ENST00000382298.7:c.1276_1277dup ENSP00000371735.3:p.Leu426PhefsTer?
ENST00000402364.1:c.-975_-974dup ENSP00000385844.1:n.-975_-974dup
ENST00000423156.1:c.148_149dup ENSP00000390925.1:p.Leu50PhefsTer?
ENST00000455470.5:c.974_975dup
NM_001278055.1:c.835_836dup NP_001264984.1:p.Leu279PhefsTer?
NM_014363.5:c.1276_1277dup NP_055178.3:p.Leu426PhefsTer?
XM_005266338.1:c.1276_1277dup XP_005266395.1:p.Leu426PhefsTer?
XM_011535038.1:c.1300_1301dup XP_011533340.1:p.Leu434PhefsTer?
XM_011535039.1:c.1267_1268dup XP_011533341.1:p.Leu423PhefsTer?
XM_005266338.2:c.1276_1277dup XP_005266395.1:p.Leu426PhefsTer?
XM_011535039.2:c.1267_1268dup XP_011533341.1:p.Leu423PhefsTer?
XM_017020539.1:c.1267_1268dup XP_016876028.1:p.Leu423PhefsTer?
XM_024449337.1:c.1276_1277dup XP_024305105.1:p.Leu426PhefsTer?
NM_014363.6:c.1276_1277dup MANE Select NP_055178.3:p.Leu426PhefsTer?
NM_001278055.2:c.835_836dup NP_001264984.1:p.Leu279PhefsTer?
Search 100 bp 5'
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