Canonical Allele Identifier: CA2622329054
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340577_23340581del , CM000675.2:g.23340577_23340581del GRCh38
NC_000013.10:g.23914716_23914720del , CM000675.1:g.23914716_23914720del GRCh37
NC_000013.9:g.22812716_22812720del NCBI36
NG_012342.1:g.98126_98130del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13208_2185+13212del ENSP00000508399.1:n.2185+13208_2185+13212...
ENST00000682944.1:c.3326_3330del ENSP00000507173.1:p.Glu1109GlyfsTer10
ENST00000683210.1:c.2185+13208_2185+13212del ENSP00000506739.1:n.2185+13208_2185+13212...
ENST00000683270.1:c.3290_3294del ENSP00000507624.1:p.Glu1097GlyfsTer10
ENST00000683367.1:c.2177-11093_2177-11089del ENSP00000507780.1:n.2177-11093_2177-11089...
ENST00000683489.1:c.2291+1008_2291+1012del ENSP00000508403.1:n.2291+1008_2291+1012de...
ENST00000683680.1:c.2318+1008_2318+1012del ENSP00000507223.1:n.2318+1008_2318+1012de...
ENST00000684163.1:c.2203+6234_2203+6238del ENSP00000508262.1:n.2203+6234_2203+6238de...
ENST00000684196.1:n.4543-11093_4543-11089del
ENST00000684325.1:c.2185+13208_2185+13212del ENSP00000508121.1:n.2185+13208_2185+13212...
ENST00000684385.1:c.2220+6234_2220+6238del ENSP00000507855.1:n.2220+6234_2220+6238de...
ENST00000684497.1:c.2185+13208_2185+13212del ENSP00000507057.1:n.2185+13208_2185+13212...
ENST00000382292.9:c.3299_3303del MANE Select ENSP00000371729.3:p.Glu1100GlyfsTer10
ENST00000423156.2:c.2186-11093_2186-11089del ENSP00000390925.2:n.2186-11093_2186-11089...
ENST00000455470.6:c.2431+868_2431+872del ENSP00000406565.2:n.2431+868_2431+872del
ENST00000382292.7:c.3299_3303del ENSP00000371729.3:p.Glu1100GlyfsTer10
ENST00000382298.7:c.3299_3303del ENSP00000371735.3:p.Glu1100GlyfsTer10
ENST00000402364.1:c.1049_1053del ENSP00000385844.1:p.Glu350GlyfsTer10
ENST00000423156.1:c.1058-11093_1058-11089del ENSP00000390925.1:n.1058-11093_1058-11089...
ENST00000455470.5:c.2129+868_2129+872del
NM_001278055.1:c.2858_2862del NP_001264984.1:p.Glu953GlyfsTer10
NM_014363.5:c.3299_3303del NP_055178.3:p.Glu1100GlyfsTer10
XM_005266338.1:c.3326_3330del XP_005266395.1:p.Glu1109GlyfsTer10
XM_011535038.1:c.3350_3354del XP_011533340.1:p.Glu1117GlyfsTer10
XM_011535039.1:c.3317_3321del XP_011533341.1:p.Glu1106GlyfsTer10
XM_005266338.2:c.3326_3330del XP_005266395.1:p.Glu1109GlyfsTer10
XM_011535039.2:c.3317_3321del XP_011533341.1:p.Glu1106GlyfsTer10
XM_017020539.1:c.3290_3294del XP_016876028.1:p.Glu1097GlyfsTer10
XM_024449337.1:c.3326_3330del XP_024305105.1:p.Glu1109GlyfsTer10
NM_014363.6:c.3299_3303del MANE Select NP_055178.3:p.Glu1100GlyfsTer10
NM_001278055.2:c.2858_2862del NP_001264984.1:p.Glu953GlyfsTer10