Canonical Allele Identifier: CA608985346
Gene: SACS HGNC NCBI

Linked Data

dbSNP Id: rs1433108674

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23375105del , CM000675.2:g.23375105del GRCh38
NC_000013.10:g.23949244del , CM000675.1:g.23949244del GRCh37
NC_000013.9:g.22847244del NCBI36
NG_012342.1:g.63602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682244.1:n.744+18del
ENST00000682547.1:c.208+18del ENSP00000507735.1:n.208+18del
ENST00000682775.1:c.171+18del ENSP00000508399.1:n.171+18del
ENST00000682944.1:c.171+18del ENSP00000507173.1:n.171+18del
ENST00000683154.1:n.309+18del
ENST00000683210.1:c.171+18del ENSP00000506739.1:n.171+18del
ENST00000683270.1:c.162+18del ENSP00000507624.1:n.162+18del
ENST00000683367.1:c.162+18del ENSP00000507780.1:n.162+18del
ENST00000683489.1:c.171+18del ENSP00000508403.1:n.171+18del
ENST00000683680.1:c.171+18del ENSP00000507223.1:n.171+18del
ENST00000684053.1:n.288+18del
ENST00000684163.1:c.162+18del ENSP00000508262.1:n.162+18del
ENST00000684325.1:c.171+18del ENSP00000508121.1:n.171+18del
ENST00000684385.1:c.171+18del ENSP00000507855.1:n.171+18del
ENST00000684497.1:c.171+18del ENSP00000507057.1:n.171+18del
ENST00000382292.9:c.171+18del MANE Select ENSP00000371729.3:n.171+18del
ENST00000423156.2:c.171+18del ENSP00000390925.2:n.171+18del
ENST00000455470.6:c.171+18del ENSP00000406565.2:n.171+18del
ENST00000382292.7:c.171+18del ENSP00000371729.3:n.171+18del
ENST00000382298.7:c.171+18del ENSP00000371735.3:n.171+18del
ENST00000402364.1:c.-1992+18del ENSP00000385844.1:n.-1992+18del
NM_001278055.1:c.-183+18del NP_001264984.1:n.-183+18del
NM_014363.5:c.171+18del NP_055178.3:n.171+18del
XM_005266338.1:c.171+18del XP_005266395.1:n.171+18del
XM_011535038.1:c.195+18del XP_011533340.1:n.195+18del
XM_011535039.1:c.162+18del XP_011533341.1:n.162+18del
XM_005266338.2:c.171+18del XP_005266395.1:n.171+18del
XM_011535039.2:c.162+18del XP_011533341.1:n.162+18del
XM_017020539.1:c.162+18del XP_016876028.1:n.162+18del
XM_024449337.1:c.171+18del XP_024305105.1:n.171+18del
NM_014363.6:c.171+18del MANE Select NP_055178.3:n.171+18del
NM_001278055.2:c.-183+18del NP_001264984.1:n.-183+18del