Canonical Allele Identifier: CA2078633155
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333408_23333410delinsAAG , CM000675.2:g.23333408_23333410delinsAAG GRCh38
NC_000013.10:g.23907547_23907549delinsAAG , CM000675.1:g.23907547_23907549delinsAAG GRCh37
NC_000013.9:g.22805547_22805549delinsAAG NCBI36
NG_012342.1:g.105293_105295delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20375_2185+20377delinsCTT ENSP00000508399.1:n.2185+20375_2185+20377delinsCTT
ENST00000682944.1:c.10493_10495delinsCTT ENSP00000507173.1:p.Ser3498=
ENST00000683210.1:c.2185+20375_2185+20377delinsCTT ENSP00000506739.1:n.2185+20375_2185+20377delinsCTT
ENST00000683270.1:c.6446-3926_6446-3924delinsCTT ENSP00000507624.1:n.6446-3926_6446-3924delinsCTT
ENST00000683367.1:c.2177-3926_2177-3924delinsCTT ENSP00000507780.1:n.2177-3926_2177-3924delinsCTT
ENST00000683489.1:c.2292-3458_2292-3456delinsCTT ENSP00000508403.1:n.2292-3458_2292-3456delinsCTT
ENST00000683680.1:c.2319-3458_2319-3456delinsCTT ENSP00000507223.1:n.2319-3458_2319-3456delinsCTT
ENST00000684163.1:c.2204-3926_2204-3924delinsCTT ENSP00000508262.1:n.2204-3926_2204-3924delinsCTT
ENST00000684196.1:n.4543-3926_4543-3924delinsCTT
ENST00000684325.1:c.2186-11736_2186-11734delinsCTT ENSP00000508121.1:n.2186-11736_2186-11734delinsCTT
ENST00000684385.1:c.2221-3926_2221-3924delinsCTT ENSP00000507855.1:n.2221-3926_2221-3924delinsCTT
ENST00000684497.1:c.2186-10766_2186-10764delinsCTT ENSP00000507057.1:n.2186-10766_2186-10764delinsCTT
ENST00000382292.9:c.10466_10468delinsCTT MANE Select ENSP00000371729.3:p.Ser3489=
ENST00000423156.2:c.2186-3926_2186-3924delinsCTT ENSP00000390925.2:n.2186-3926_2186-3924delinsCTT
ENST00000455470.6:c.2432-3926_2432-3924delinsCTT ENSP00000406565.2:n.2432-3926_2432-3924delinsCTT
ENST00000382292.7:c.10466_10468delinsCTT ENSP00000371729.3:p.Ser3489=
ENST00000382298.7:c.10466_10468delinsCTT ENSP00000371735.3:p.Ser3489=
ENST00000402364.1:c.8216_8218delinsCTT ENSP00000385844.1:p.Ser2739=
ENST00000423156.1:c.1058-3926_1058-3924delinsCTT ENSP00000390925.1:n.1058-3926_1058-3924delinsCTT
ENST00000455470.5:c.2130-3926_2130-3924delinsCTT
NM_001278055.1:c.10025_10027delinsCTT NP_001264984.1:p.Ser3342=
NM_014363.5:c.10466_10468delinsCTT NP_055178.3:p.Ser3489=
XM_005266338.1:c.10493_10495delinsCTT XP_005266395.1:p.Ser3498=
XM_011535038.1:c.10517_10519delinsCTT XP_011533340.1:p.Ser3506=
XM_011535039.1:c.10484_10486delinsCTT XP_011533341.1:p.Ser3495=
XM_005266338.2:c.10493_10495delinsCTT XP_005266395.1:p.Ser3498=
XM_011535039.2:c.10484_10486delinsCTT XP_011533341.1:p.Ser3495=
XM_017020539.1:c.10457_10459delinsCTT XP_016876028.1:p.Ser3486=
XM_024449337.1:c.10493_10495delinsCTT XP_024305105.1:p.Ser3498=
NM_014363.6:c.10466_10468delinsCTT MANE Select NP_055178.3:p.Ser3489=
NM_001278055.2:c.10025_10027delinsCTT NP_001264984.1:p.Ser3342=