Canonical Allele Identifier: CA16041632
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371470
ClinVar RCV Id: RCV000412471
dbSNP Id: rs1057517297

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338499del , CM000675.2:g.23338499del GRCh38
NC_000013.10:g.23912638del , CM000675.1:g.23912638del GRCh37
NC_000013.9:g.22810638del NCBI36
NG_012342.1:g.100206del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+15288del ENSP00000508399.1:n.2185+15288del
ENST00000682944.1:c.5406del ENSP00000507173.1:p.Phe1802LeufsTer21
ENST00000683210.1:c.2185+15288del ENSP00000506739.1:n.2185+15288del
ENST00000683270.1:c.5370del ENSP00000507624.1:p.Phe1790LeufsTer21
ENST00000683367.1:c.2177-9013del ENSP00000507780.1:n.2177-9013del
ENST00000683489.1:c.2291+3088del ENSP00000508403.1:n.2291+3088del
ENST00000683680.1:c.2318+3088del ENSP00000507223.1:n.2318+3088del
ENST00000684163.1:c.2203+8314del ENSP00000508262.1:n.2203+8314del
ENST00000684196.1:n.4543-9013del
ENST00000684325.1:c.2185+15288del ENSP00000508121.1:n.2185+15288del
ENST00000684385.1:c.2220+8314del ENSP00000507855.1:n.2220+8314del
ENST00000684497.1:c.2185+15288del ENSP00000507057.1:n.2185+15288del
ENST00000382292.9:c.5379del MANE Select ENSP00000371729.3:p.Phe1793LeufsTer21
ENST00000423156.2:c.2186-9013del ENSP00000390925.2:n.2186-9013del
ENST00000455470.6:c.2431+2948del ENSP00000406565.2:n.2431+2948del
ENST00000382292.7:c.5379del ENSP00000371729.3:p.Phe1793LeufsTer21
ENST00000382298.7:c.5379del ENSP00000371735.3:p.Phe1793LeufsTer21
ENST00000402364.1:c.3129del ENSP00000385844.1:p.Phe1043LeufsTer21
ENST00000423156.1:c.1058-9013del ENSP00000390925.1:n.1058-9013del
ENST00000455470.5:c.2129+2948del
NM_001278055.1:c.4938del NP_001264984.1:p.Phe1646LeufsTer21
NM_014363.5:c.5379del NP_055178.3:p.Phe1793LeufsTer21
XM_005266338.1:c.5406del XP_005266395.1:p.Phe1802LeufsTer21
XM_011535038.1:c.5430del XP_011533340.1:p.Phe1810LeufsTer21
XM_011535039.1:c.5397del XP_011533341.1:p.Phe1799LeufsTer21
XM_005266338.2:c.5406del XP_005266395.1:p.Phe1802LeufsTer21
XM_011535039.2:c.5397del XP_011533341.1:p.Phe1799LeufsTer21
XM_017020539.1:c.5370del XP_016876028.1:p.Phe1790LeufsTer21
XM_024449337.1:c.5406del XP_024305105.1:p.Phe1802LeufsTer21
NM_014363.6:c.5379del MANE Select NP_055178.3:p.Phe1793LeufsTer21
NM_001278055.2:c.4938del NP_001264984.1:p.Phe1646LeufsTer21