Canonical Allele Identifier: CA2078626298
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336791_23336796delinsTGAAAA , CM000675.2:g.23336791_23336796delinsTGAAAA GRCh38
NC_000013.10:g.23910930_23910935delinsTGAAAA , CM000675.1:g.23910930_23910935delinsTGAAAA GRCh37
NC_000013.9:g.22808930_22808935delinsTGAAAA NCBI36
NG_012342.1:g.101907_101912delinsTTTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16989_2185+16994delinsTTTTCA ENSP00000508399.1:n.2185+16989_2185+16994delinsTTTTCA
ENST00000682944.1:c.7107_7112delinsTTTTCA ENSP00000507173.1:p.Ser2369=
ENST00000683210.1:c.2185+16989_2185+16994delinsTTTTCA ENSP00000506739.1:n.2185+16989_2185+16994delinsTTTTCA
ENST00000683270.1:c.6445+626_6445+631delinsTTTTCA ENSP00000507624.1:n.6445+626_6445+631delinsTTTTCA
ENST00000683367.1:c.2177-7312_2177-7307delinsTTTTCA ENSP00000507780.1:n.2177-7312_2177-7307delinsTTTTCA
ENST00000683489.1:c.2291+4789_2291+4794delinsTTTTCA ENSP00000508403.1:n.2291+4789_2291+4794delinsTTTTCA
ENST00000683680.1:c.2318+4789_2318+4794delinsTTTTCA ENSP00000507223.1:n.2318+4789_2318+4794delinsTTTTCA
ENST00000684163.1:c.2204-7312_2204-7307delinsTTTTCA ENSP00000508262.1:n.2204-7312_2204-7307delinsTTTTCA
ENST00000684196.1:n.4543-7312_4543-7307delinsTTTTCA
ENST00000684325.1:c.2186-15122_2186-15117delinsTTTTCA ENSP00000508121.1:n.2186-15122_2186-15117delinsTTTTCA
ENST00000684385.1:c.2221-7312_2221-7307delinsTTTTCA ENSP00000507855.1:n.2221-7312_2221-7307delinsTTTTCA
ENST00000684497.1:c.2186-14152_2186-14147delinsTTTTCA ENSP00000507057.1:n.2186-14152_2186-14147delinsTTTTCA
ENST00000382292.9:c.7080_7085delinsTTTTCA MANE Select ENSP00000371729.3:p.Ser2360=
ENST00000423156.2:c.2186-7312_2186-7307delinsTTTTCA ENSP00000390925.2:n.2186-7312_2186-7307delinsTTTTCA
ENST00000455470.6:c.2431+4649_2431+4654delinsTTTTCA ENSP00000406565.2:n.2431+4649_2431+4654delinsTTTTCA
ENST00000382292.7:c.7080_7085delinsTTTTCA ENSP00000371729.3:p.Ser2360=
ENST00000382298.7:c.7080_7085delinsTTTTCA ENSP00000371735.3:p.Ser2360=
ENST00000402364.1:c.4830_4835delinsTTTTCA ENSP00000385844.1:p.Ser1610=
ENST00000423156.1:c.1058-7312_1058-7307delinsTTTTCA ENSP00000390925.1:n.1058-7312_1058-7307delinsTTTTCA
ENST00000455470.5:c.2129+4649_2129+4654delinsTTTTCA
NM_001278055.1:c.6639_6644delinsTTTTCA NP_001264984.1:p.Ser2213=
NM_014363.5:c.7080_7085delinsTTTTCA NP_055178.3:p.Ser2360=
XM_005266338.1:c.7107_7112delinsTTTTCA XP_005266395.1:p.Ser2369=
XM_011535038.1:c.7131_7136delinsTTTTCA XP_011533340.1:p.Ser2377=
XM_011535039.1:c.7098_7103delinsTTTTCA XP_011533341.1:p.Ser2366=
XM_005266338.2:c.7107_7112delinsTTTTCA XP_005266395.1:p.Ser2369=
XM_011535039.2:c.7098_7103delinsTTTTCA XP_011533341.1:p.Ser2366=
XM_017020539.1:c.7071_7076delinsTTTTCA XP_016876028.1:p.Ser2357=
XM_024449337.1:c.7107_7112delinsTTTTCA XP_024305105.1:p.Ser2369=
NM_014363.6:c.7080_7085delinsTTTTCA MANE Select NP_055178.3:p.Ser2360=
NM_001278055.2:c.6639_6644delinsTTTTCA NP_001264984.1:p.Ser2213=