Canonical Allele Identifier: CA16041612
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370930
ClinVar RCV Id: RCV000410587
dbSNP Id: rs1057516875
MyVariant Identifiers: chr13:g.23908638dupA (hg19) chr13:g.23908637_23908638insA (hg19) chr13:g.23334499dupA (hg38) chr13:g.23334498_23334499insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334499dup , CM000675.2:g.23334499dup GRCh38
NC_000013.10:g.23908638dup , CM000675.1:g.23908638dup GRCh37
NC_000013.9:g.22806638dup NCBI36
NG_012342.1:g.104204dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19286dup ENSP00000508399.1:n.2185+19286dup
ENST00000682944.1:c.9404dup ENSP00000507173.1:p.Leu3137ThrfsTer4
ENST00000683210.1:c.2185+19286dup ENSP00000506739.1:n.2185+19286dup
ENST00000683270.1:c.6445+2923dup ENSP00000507624.1:n.6445+2923dup
ENST00000683367.1:c.2177-5015dup ENSP00000507780.1:n.2177-5015dup
ENST00000683489.1:c.2292-4547dup ENSP00000508403.1:n.2292-4547dup
ENST00000683680.1:c.2319-4547dup ENSP00000507223.1:n.2319-4547dup
ENST00000684163.1:c.2204-5015dup ENSP00000508262.1:n.2204-5015dup
ENST00000684196.1:n.4543-5015dup
ENST00000684325.1:c.2186-12825dup ENSP00000508121.1:n.2186-12825dup
ENST00000684385.1:c.2221-5015dup ENSP00000507855.1:n.2221-5015dup
ENST00000684497.1:c.2186-11855dup ENSP00000507057.1:n.2186-11855dup
ENST00000382292.9:c.9377dup MANE Select ENSP00000371729.3:p.Leu3128ThrfsTer4
ENST00000423156.2:c.2186-5015dup ENSP00000390925.2:n.2186-5015dup
ENST00000455470.6:c.2432-5015dup ENSP00000406565.2:n.2432-5015dup
ENST00000382292.7:c.9377dup ENSP00000371729.3:p.Leu3128ThrfsTer4
ENST00000382298.7:c.9377dup ENSP00000371735.3:p.Leu3128ThrfsTer4
ENST00000402364.1:c.7127dup ENSP00000385844.1:p.Leu2378ThrfsTer4
ENST00000423156.1:c.1058-5015dup ENSP00000390925.1:n.1058-5015dup
ENST00000455470.5:c.2130-5015dup
NM_001278055.1:c.8936dup NP_001264984.1:p.Leu2981ThrfsTer4
NM_014363.5:c.9377dup NP_055178.3:p.Leu3128ThrfsTer4
XM_005266338.1:c.9404dup XP_005266395.1:p.Leu3137ThrfsTer4
XM_011535038.1:c.9428dup XP_011533340.1:p.Leu3145ThrfsTer4
XM_011535039.1:c.9395dup XP_011533341.1:p.Leu3134ThrfsTer4
XM_005266338.2:c.9404dup XP_005266395.1:p.Leu3137ThrfsTer4
XM_011535039.2:c.9395dup XP_011533341.1:p.Leu3134ThrfsTer4
XM_017020539.1:c.9368dup XP_016876028.1:p.Leu3125ThrfsTer4
XM_024449337.1:c.9404dup XP_024305105.1:p.Leu3137ThrfsTer4
NM_014363.6:c.9377dup MANE Select NP_055178.3:p.Leu3128ThrfsTer4
NM_001278055.2:c.8936dup NP_001264984.1:p.Leu2981ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'