Canonical Allele Identifier: CA2994520988
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23338414_23338415insCACGTGGCTTCTGTGTACTTGCATGGAC , CM000675.2:g.23338414_23338415insCACGTGGCTTCTGTGTACTTGCATGGAC GRCh38
NC_000013.10:g.23912553_23912554insCACGTGGCTTCTGTGTACTTGCATGGAC , CM000675.1:g.23912553_23912554insCACGTGGCTTCTGTGTACTTGCATGGAC GRCh37
NC_000013.9:g.22810553_22810554insCACGTGGCTTCTGTGTACTTGCATGGAC NCBI36
NG_012342.1:g.100290_100291insCCATGCAAGTACACAGAAGCCACGTGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+15372_2185+15373insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000508399.1:n.2185+15372_2185+15373insCCATGCAAGTACACAGA...
ENST00000682944.1:c.5490_5491insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507173.1:p.Thr1831ProfsTer24
ENST00000683210.1:c.2185+15372_2185+15373insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000506739.1:n.2185+15372_2185+15373insCCATGCAAGTACACAGA...
ENST00000683270.1:c.5454_5455insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507624.1:p.Thr1819ProfsTer24
ENST00000683367.1:c.2177-8929_2177-8928insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507780.1:n.2177-8929_2177-8928insCCATGCAAGTACACAGAAG...
ENST00000683489.1:c.2291+3172_2291+3173insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000508403.1:n.2291+3172_2291+3173insCCATGCAAGTACACAGAAG...
ENST00000683680.1:c.2318+3172_2318+3173insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507223.1:n.2318+3172_2318+3173insCCATGCAAGTACACAGAAG...
ENST00000684163.1:c.2203+8398_2203+8399insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000508262.1:n.2203+8398_2203+8399insCCATGCAAGTACACAGAAG...
ENST00000684196.1:n.4543-8929_4543-8928insCCATGCAAGTACACAGAAGCCACGTGGT
ENST00000684325.1:c.2185+15372_2185+15373insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000508121.1:n.2185+15372_2185+15373insCCATGCAAGTACACAGA...
ENST00000684385.1:c.2220+8398_2220+8399insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507855.1:n.2220+8398_2220+8399insCCATGCAAGTACACAGAAG...
ENST00000684497.1:c.2185+15372_2185+15373insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000507057.1:n.2185+15372_2185+15373insCCATGCAAGTACACAGA...
ENST00000382292.9:c.5463_5464insCCATGCAAGTACACAGAAGCCACGTGGT MANE Select ENSP00000371729.3:p.Thr1822ProfsTer24
ENST00000423156.2:c.2186-8929_2186-8928insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000390925.2:n.2186-8929_2186-8928insCCATGCAAGTACACAGAAG...
ENST00000455470.6:c.2431+3032_2431+3033insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000406565.2:n.2431+3032_2431+3033insCCATGCAAGTACACAGAAG...
ENST00000382292.7:c.5463_5464insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000371729.3:p.Thr1822ProfsTer24
ENST00000382298.7:c.5463_5464insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000371735.3:p.Thr1822ProfsTer24
ENST00000402364.1:c.3213_3214insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000385844.1:p.Thr1072ProfsTer24
ENST00000423156.1:c.1058-8929_1058-8928insCCATGCAAGTACACAGAAGCCACGTGGT ENSP00000390925.1:n.1058-8929_1058-8928insCCATGCAAGTACACAGAAG...
ENST00000455470.5:c.2129+3032_2129+3033insCCATGCAAGTACACAGAAGCCACGTGGT
NM_001278055.1:c.5022_5023insCCATGCAAGTACACAGAAGCCACGTGGT NP_001264984.1:p.Thr1675ProfsTer24
NM_014363.5:c.5463_5464insCCATGCAAGTACACAGAAGCCACGTGGT NP_055178.3:p.Thr1822ProfsTer24
XM_005266338.1:c.5490_5491insCCATGCAAGTACACAGAAGCCACGTGGT XP_005266395.1:p.Thr1831ProfsTer24
XM_011535038.1:c.5514_5515insCCATGCAAGTACACAGAAGCCACGTGGT XP_011533340.1:p.Thr1839ProfsTer24
XM_011535039.1:c.5481_5482insCCATGCAAGTACACAGAAGCCACGTGGT XP_011533341.1:p.Thr1828ProfsTer24
XM_005266338.2:c.5490_5491insCCATGCAAGTACACAGAAGCCACGTGGT XP_005266395.1:p.Thr1831ProfsTer24
XM_011535039.2:c.5481_5482insCCATGCAAGTACACAGAAGCCACGTGGT XP_011533341.1:p.Thr1828ProfsTer24
XM_017020539.1:c.5454_5455insCCATGCAAGTACACAGAAGCCACGTGGT XP_016876028.1:p.Thr1819ProfsTer24
XM_024449337.1:c.5490_5491insCCATGCAAGTACACAGAAGCCACGTGGT XP_024305105.1:p.Thr1831ProfsTer24
NM_014363.6:c.5463_5464insCCATGCAAGTACACAGAAGCCACGTGGT MANE Select NP_055178.3:p.Thr1822ProfsTer24
NM_001278055.2:c.5022_5023insCCATGCAAGTACACAGAAGCCACGTGGT NP_001264984.1:p.Thr1675ProfsTer24