Canonical Allele Identifier: CA16041656
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371399
ClinVar RCV Id: RCV000410403
dbSNP Id: rs1057517242
COSMIC: COSM5201257 COSM5201258
MyVariant Identifiers: chr13:g.23929666del (hg19) chr13:g.23355527del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355531del , CM000675.2:g.23355531del GRCh38
NC_000013.10:g.23929670del , CM000675.1:g.23929670del GRCh37
NC_000013.9:g.22827670del NCBI36
NG_012342.1:g.83176del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.1085del ENSP00000508399.1:p.Lys362ArgfsTer10
ENST00000682944.1:c.1085del ENSP00000507173.1:p.Lys362ArgfsTer10
ENST00000683154.1:n.1223del
ENST00000683210.1:c.1085del ENSP00000506739.1:p.Lys362ArgfsTer10
ENST00000683270.1:c.1076del ENSP00000507624.1:p.Lys359ArgfsTer10
ENST00000683367.1:c.1076del ENSP00000507780.1:p.Lys359ArgfsTer10
ENST00000683489.1:c.1085del ENSP00000508403.1:p.Lys362ArgfsTer10
ENST00000683680.1:c.1085del ENSP00000507223.1:p.Lys362ArgfsTer10
ENST00000684163.1:c.1076del ENSP00000508262.1:p.Lys359ArgfsTer10
ENST00000684196.1:n.3442del
ENST00000684325.1:c.1085del ENSP00000508121.1:p.Lys362ArgfsTer10
ENST00000684385.1:c.1085del ENSP00000507855.1:p.Lys362ArgfsTer10
ENST00000684497.1:c.1085del ENSP00000507057.1:p.Lys362ArgfsTer10
ENST00000382292.9:c.1085del MANE Select ENSP00000371729.3:p.Lys362ArgfsTer10
ENST00000423156.2:c.1085del ENSP00000390925.2:p.Lys362ArgfsTer10
ENST00000455470.6:c.1085del ENSP00000406565.2:p.Lys362ArgfsTer10
ENST00000382292.7:c.1085del ENSP00000371729.3:p.Lys362ArgfsTer10
ENST00000382298.7:c.1085del ENSP00000371735.3:p.Lys362ArgfsTer10
ENST00000402364.1:c.-1166del ENSP00000385844.1:n.-1166del
ENST00000455470.5:c.783del
NM_001278055.1:c.644del NP_001264984.1:p.Lys215ArgfsTer10
NM_014363.5:c.1085del NP_055178.3:p.Lys362ArgfsTer10
XM_005266338.1:c.1085del XP_005266395.1:p.Lys362ArgfsTer10
XM_011535038.1:c.1109del XP_011533340.1:p.Lys370ArgfsTer10
XM_011535039.1:c.1076del XP_011533341.1:p.Lys359ArgfsTer10
XM_005266338.2:c.1085del XP_005266395.1:p.Lys362ArgfsTer10
XM_011535039.2:c.1076del XP_011533341.1:p.Lys359ArgfsTer10
XM_017020539.1:c.1076del XP_016876028.1:p.Lys359ArgfsTer10
XM_024449337.1:c.1085del XP_024305105.1:p.Lys362ArgfsTer10
NM_014363.6:c.1085del MANE Select NP_055178.3:p.Lys362ArgfsTer10
NM_001278055.2:c.644del NP_001264984.1:p.Lys215ArgfsTer10
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