Canonical Allele Identifier: CA2078626312
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336794_23336797delinsAAAG , CM000675.2:g.23336794_23336797delinsAAAG GRCh38
NC_000013.10:g.23910933_23910936delinsAAAG , CM000675.1:g.23910933_23910936delinsAAAG GRCh37
NC_000013.9:g.22808933_22808936delinsAAAG NCBI36
NG_012342.1:g.101906_101909delinsCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+16988_2185+16991delinsCTTT ENSP00000508399.1:n.2185+16988_2185+16991delinsCTTT
ENST00000682944.1:c.7106_7109delinsCTTT ENSP00000507173.1:p.Ser2369=
ENST00000683210.1:c.2185+16988_2185+16991delinsCTTT ENSP00000506739.1:n.2185+16988_2185+16991delinsCTTT
ENST00000683270.1:c.6445+625_6445+628delinsCTTT ENSP00000507624.1:n.6445+625_6445+628delinsCTTT
ENST00000683367.1:c.2177-7313_2177-7310delinsCTTT ENSP00000507780.1:n.2177-7313_2177-7310delinsCTTT
ENST00000683489.1:c.2291+4788_2291+4791delinsCTTT ENSP00000508403.1:n.2291+4788_2291+4791delinsCTTT
ENST00000683680.1:c.2318+4788_2318+4791delinsCTTT ENSP00000507223.1:n.2318+4788_2318+4791delinsCTTT
ENST00000684163.1:c.2204-7313_2204-7310delinsCTTT ENSP00000508262.1:n.2204-7313_2204-7310delinsCTTT
ENST00000684196.1:n.4543-7313_4543-7310delinsCTTT
ENST00000684325.1:c.2186-15123_2186-15120delinsCTTT ENSP00000508121.1:n.2186-15123_2186-15120delinsCTTT
ENST00000684385.1:c.2221-7313_2221-7310delinsCTTT ENSP00000507855.1:n.2221-7313_2221-7310delinsCTTT
ENST00000684497.1:c.2186-14153_2186-14150delinsCTTT ENSP00000507057.1:n.2186-14153_2186-14150delinsCTTT
ENST00000382292.9:c.7079_7082delinsCTTT MANE Select ENSP00000371729.3:p.Ser2360=
ENST00000423156.2:c.2186-7313_2186-7310delinsCTTT ENSP00000390925.2:n.2186-7313_2186-7310delinsCTTT
ENST00000455470.6:c.2431+4648_2431+4651delinsCTTT ENSP00000406565.2:n.2431+4648_2431+4651delinsCTTT
ENST00000382292.7:c.7079_7082delinsCTTT ENSP00000371729.3:p.Ser2360=
ENST00000382298.7:c.7079_7082delinsCTTT ENSP00000371735.3:p.Ser2360=
ENST00000402364.1:c.4829_4832delinsCTTT ENSP00000385844.1:p.Ser1610=
ENST00000423156.1:c.1058-7313_1058-7310delinsCTTT ENSP00000390925.1:n.1058-7313_1058-7310delinsCTTT
ENST00000455470.5:c.2129+4648_2129+4651delinsCTTT
NM_001278055.1:c.6638_6641delinsCTTT NP_001264984.1:p.Ser2213=
NM_014363.5:c.7079_7082delinsCTTT NP_055178.3:p.Ser2360=
XM_005266338.1:c.7106_7109delinsCTTT XP_005266395.1:p.Ser2369=
XM_011535038.1:c.7130_7133delinsCTTT XP_011533340.1:p.Ser2377=
XM_011535039.1:c.7097_7100delinsCTTT XP_011533341.1:p.Ser2366=
XM_005266338.2:c.7106_7109delinsCTTT XP_005266395.1:p.Ser2369=
XM_011535039.2:c.7097_7100delinsCTTT XP_011533341.1:p.Ser2366=
XM_017020539.1:c.7070_7073delinsCTTT XP_016876028.1:p.Ser2357=
XM_024449337.1:c.7106_7109delinsCTTT XP_024305105.1:p.Ser2369=
NM_014363.6:c.7079_7082delinsCTTT MANE Select NP_055178.3:p.Ser2360=
NM_001278055.2:c.6638_6641delinsCTTT NP_001264984.1:p.Ser2213=