Canonical Allele Identifier: CA696611564
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1325829806

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336588_23336594del , CM000675.2:g.23336588_23336594del GRCh38
NC_000013.10:g.23910727_23910733del , CM000675.1:g.23910727_23910733del GRCh37
NC_000013.9:g.22808727_22808733del NCBI36
NG_012342.1:g.102110_102116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17192_2185+17198del ENSP00000508399.1:n.2185+17192_2185+17198del
ENST00000682944.1:c.7310_7316del ENSP00000507173.1:p.Ile2437LysfsTer?
ENST00000683210.1:c.2185+17192_2185+17198del ENSP00000506739.1:n.2185+17192_2185+17198del
ENST00000683270.1:c.6445+829_6445+835del ENSP00000507624.1:n.6445+829_6445+835del
ENST00000683367.1:c.2177-7109_2177-7103del ENSP00000507780.1:n.2177-7109_2177-7103del
ENST00000683489.1:c.2291+4992_2291+4998del ENSP00000508403.1:n.2291+4992_2291+4998del
ENST00000683680.1:c.2318+4992_2318+4998del ENSP00000507223.1:n.2318+4992_2318+4998del
ENST00000684163.1:c.2204-7109_2204-7103del ENSP00000508262.1:n.2204-7109_2204-7103del
ENST00000684196.1:n.4543-7109_4543-7103del
ENST00000684325.1:c.2186-14919_2186-14913del ENSP00000508121.1:n.2186-14919_2186-14913del
ENST00000684385.1:c.2221-7109_2221-7103del ENSP00000507855.1:n.2221-7109_2221-7103del
ENST00000684497.1:c.2186-13949_2186-13943del ENSP00000507057.1:n.2186-13949_2186-13943del
ENST00000382292.9:c.7283_7289del MANE Select ENSP00000371729.3:p.Ile2428LysfsTer?
ENST00000423156.2:c.2186-7109_2186-7103del ENSP00000390925.2:n.2186-7109_2186-7103del
ENST00000455470.6:c.2431+4852_2431+4858del ENSP00000406565.2:n.2431+4852_2431+4858del
ENST00000382292.7:c.7283_7289del ENSP00000371729.3:p.Ile2428LysfsTer?
ENST00000382298.7:c.7283_7289del ENSP00000371735.3:p.Ile2428LysfsTer?
ENST00000402364.1:c.5033_5039del ENSP00000385844.1:p.Ile1678LysfsTer?
ENST00000423156.1:c.1058-7109_1058-7103del ENSP00000390925.1:n.1058-7109_1058-7103del
ENST00000455470.5:c.2129+4852_2129+4858del
NM_001278055.1:c.6842_6848del NP_001264984.1:p.Ile2281LysfsTer?
NM_014363.5:c.7283_7289del NP_055178.3:p.Ile2428LysfsTer?
XM_005266338.1:c.7310_7316del XP_005266395.1:p.Ile2437LysfsTer?
XM_011535038.1:c.7334_7340del XP_011533340.1:p.Ile2445LysfsTer?
XM_011535039.1:c.7301_7307del XP_011533341.1:p.Ile2434LysfsTer?
XM_005266338.2:c.7310_7316del XP_005266395.1:p.Ile2437LysfsTer?
XM_011535039.2:c.7301_7307del XP_011533341.1:p.Ile2434LysfsTer?
XM_017020539.1:c.7274_7280del XP_016876028.1:p.Ile2425LysfsTer?
XM_024449337.1:c.7310_7316del XP_024305105.1:p.Ile2437LysfsTer?
NM_014363.6:c.7283_7289del MANE Select NP_055178.3:p.Ile2428LysfsTer?
NM_001278055.2:c.6842_6848del NP_001264984.1:p.Ile2281LysfsTer?