Canonical Allele Identifier: CA2622329057
Gene: SACS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340692_23340693insC , CM000675.2:g.23340692_23340693insC GRCh38
NC_000013.10:g.23914831_23914832insC , CM000675.1:g.23914831_23914832insC GRCh37
NC_000013.9:g.22812831_22812832insC NCBI36
NG_012342.1:g.98010_98011insG

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+13092_2185+13093insG ENSP00000508399.1:n.2185+13092_2185+13093...
ENST00000682944.1:c.3210_3211insG ENSP00000507173.1:p.Lys1071GlufsTer6
ENST00000683210.1:c.2185+13092_2185+13093insG ENSP00000506739.1:n.2185+13092_2185+13093...
ENST00000683270.1:c.3174_3175insG ENSP00000507624.1:p.Lys1059GlufsTer6
ENST00000683367.1:c.2177-11209_2177-11208insG ENSP00000507780.1:n.2177-11209_2177-11208...
ENST00000683489.1:c.2291+892_2291+893insG ENSP00000508403.1:n.2291+892_2291+893insG...
ENST00000683680.1:c.2318+892_2318+893insG ENSP00000507223.1:n.2318+892_2318+893insG...
ENST00000684163.1:c.2203+6118_2203+6119insG ENSP00000508262.1:n.2203+6118_2203+6119in...
ENST00000684196.1:n.4543-11209_4543-11208insG
ENST00000684325.1:c.2185+13092_2185+13093insG ENSP00000508121.1:n.2185+13092_2185+13093...
ENST00000684385.1:c.2220+6118_2220+6119insG ENSP00000507855.1:n.2220+6118_2220+6119in...
ENST00000684497.1:c.2185+13092_2185+13093insG ENSP00000507057.1:n.2185+13092_2185+13093...
ENST00000382292.9:c.3183_3184insG MANE Select ENSP00000371729.3:p.Lys1062GlufsTer6
ENST00000423156.2:c.2186-11209_2186-11208insG ENSP00000390925.2:n.2186-11209_2186-11208...
ENST00000455470.6:c.2431+752_2431+753insG ENSP00000406565.2:n.2431+752_2431+753insG...
ENST00000382292.7:c.3183_3184insG ENSP00000371729.3:p.Lys1062GlufsTer6
ENST00000382298.7:c.3183_3184insG ENSP00000371735.3:p.Lys1062GlufsTer6
ENST00000402364.1:c.933_934insG ENSP00000385844.1:p.Lys312GlufsTer6
ENST00000423156.1:c.1058-11209_1058-11208insG ENSP00000390925.1:n.1058-11209_1058-11208...
ENST00000455470.5:c.2129+752_2129+753insG
NM_001278055.1:c.2742_2743insG NP_001264984.1:p.Lys915GlufsTer6
NM_014363.5:c.3183_3184insG NP_055178.3:p.Lys1062GlufsTer6
XM_005266338.1:c.3210_3211insG XP_005266395.1:p.Lys1071GlufsTer6
XM_011535038.1:c.3234_3235insG XP_011533340.1:p.Lys1079GlufsTer6
XM_011535039.1:c.3201_3202insG XP_011533341.1:p.Lys1068GlufsTer6
XM_005266338.2:c.3210_3211insG XP_005266395.1:p.Lys1071GlufsTer6
XM_011535039.2:c.3201_3202insG XP_011533341.1:p.Lys1068GlufsTer6
XM_017020539.1:c.3174_3175insG XP_016876028.1:p.Lys1059GlufsTer6
XM_024449337.1:c.3210_3211insG XP_024305105.1:p.Lys1071GlufsTer6
NM_014363.6:c.3183_3184insG MANE Select NP_055178.3:p.Lys1062GlufsTer6
NM_001278055.2:c.2742_2743insG NP_001264984.1:p.Lys915GlufsTer6