Canonical Allele Identifier: CA6910932
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs747900635

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336569_23336570insATGTCAGTTCTGATCATTCA , CM000675.2:g.23336569_23336570insATGTCAGTTCTGATCATTCA GRCh38
NC_000013.10:g.23910708_23910709insATGTCAGTTCTGATCATTCA , CM000675.1:g.23910708_23910709insATGTCAGTTCTGATCATTCA GRCh37
NC_000013.9:g.22808708_22808709insATGTCAGTTCTGATCATTCA NCBI36
NG_012342.1:g.102134_102135insGAATGATCAGAACTGACATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17216_2185+17217insGAATGATCAGAACTGACATT ENSP00000508399.1:n.2185+17216_2185+17217insGAATGATCAGAACTGAC...
ENST00000682944.1:c.7334_7335insGAATGATCAGAACTGACATT ENSP00000507173.1:p.Ile2445MetfsTer6
ENST00000683210.1:c.2185+17216_2185+17217insGAATGATCAGAACTGACATT ENSP00000506739.1:n.2185+17216_2185+17217insGAATGATCAGAACTGAC...
ENST00000683270.1:c.6445+853_6445+854insGAATGATCAGAACTGACATT ENSP00000507624.1:n.6445+853_6445+854insGAATGATCAGAACTGACATT
ENST00000683367.1:c.2177-7085_2177-7084insGAATGATCAGAACTGACATT ENSP00000507780.1:n.2177-7085_2177-7084insGAATGATCAGAACTGACAT...
ENST00000683489.1:c.2291+5016_2291+5017insGAATGATCAGAACTGACATT ENSP00000508403.1:n.2291+5016_2291+5017insGAATGATCAGAACTGACAT...
ENST00000683680.1:c.2318+5016_2318+5017insGAATGATCAGAACTGACATT ENSP00000507223.1:n.2318+5016_2318+5017insGAATGATCAGAACTGACAT...
ENST00000684163.1:c.2204-7085_2204-7084insGAATGATCAGAACTGACATT ENSP00000508262.1:n.2204-7085_2204-7084insGAATGATCAGAACTGACAT...
ENST00000684196.1:n.4543-7085_4543-7084insGAATGATCAGAACTGACATT
ENST00000684325.1:c.2186-14895_2186-14894insGAATGATCAGAACTGACATT ENSP00000508121.1:n.2186-14895_2186-14894insGAATGATCAGAACTGAC...
ENST00000684385.1:c.2221-7085_2221-7084insGAATGATCAGAACTGACATT ENSP00000507855.1:n.2221-7085_2221-7084insGAATGATCAGAACTGACAT...
ENST00000684497.1:c.2186-13925_2186-13924insGAATGATCAGAACTGACATT ENSP00000507057.1:n.2186-13925_2186-13924insGAATGATCAGAACTGAC...
ENST00000382292.9:c.7307_7308insGAATGATCAGAACTGACATT MANE Select ENSP00000371729.3:p.Ile2436MetfsTer6
ENST00000423156.2:c.2186-7085_2186-7084insGAATGATCAGAACTGACATT ENSP00000390925.2:n.2186-7085_2186-7084insGAATGATCAGAACTGACAT...
ENST00000455470.6:c.2431+4876_2431+4877insGAATGATCAGAACTGACATT ENSP00000406565.2:n.2431+4876_2431+4877insGAATGATCAGAACTGACAT...
ENST00000382292.7:c.7307_7308insGAATGATCAGAACTGACATT ENSP00000371729.3:p.Ile2436MetfsTer6
ENST00000382298.7:c.7307_7308insGAATGATCAGAACTGACATT ENSP00000371735.3:p.Ile2436MetfsTer6
ENST00000402364.1:c.5057_5058insGAATGATCAGAACTGACATT ENSP00000385844.1:p.Ile1686MetfsTer6
ENST00000423156.1:c.1058-7085_1058-7084insGAATGATCAGAACTGACATT ENSP00000390925.1:n.1058-7085_1058-7084insGAATGATCAGAACTGACAT...
ENST00000455470.5:c.2129+4876_2129+4877insGAATGATCAGAACTGACATT
NM_001278055.1:c.6866_6867insGAATGATCAGAACTGACATT NP_001264984.1:p.Ile2289MetfsTer6
NM_014363.5:c.7307_7308insGAATGATCAGAACTGACATT NP_055178.3:p.Ile2436MetfsTer6
XM_005266338.1:c.7334_7335insGAATGATCAGAACTGACATT XP_005266395.1:p.Ile2445MetfsTer6
XM_011535038.1:c.7358_7359insGAATGATCAGAACTGACATT XP_011533340.1:p.Ile2453MetfsTer6
XM_011535039.1:c.7325_7326insGAATGATCAGAACTGACATT XP_011533341.1:p.Ile2442MetfsTer6
XM_005266338.2:c.7334_7335insGAATGATCAGAACTGACATT XP_005266395.1:p.Ile2445MetfsTer6
XM_011535039.2:c.7325_7326insGAATGATCAGAACTGACATT XP_011533341.1:p.Ile2442MetfsTer6
XM_017020539.1:c.7298_7299insGAATGATCAGAACTGACATT XP_016876028.1:p.Ile2433MetfsTer6
XM_024449337.1:c.7334_7335insGAATGATCAGAACTGACATT XP_024305105.1:p.Ile2445MetfsTer6
NM_014363.6:c.7307_7308insGAATGATCAGAACTGACATT MANE Select NP_055178.3:p.Ile2436MetfsTer6
NM_001278055.2:c.6866_6867insGAATGATCAGAACTGACATT NP_001264984.1:p.Ile2289MetfsTer6