Canonical Allele Identifier: CA2078624276
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23335841_23335842delinsAG , CM000675.2:g.23335841_23335842delinsAG GRCh38
NC_000013.10:g.23909980_23909981delinsAG , CM000675.1:g.23909980_23909981delinsAG GRCh37
NC_000013.9:g.22807980_22807981delinsAG NCBI36
NG_012342.1:g.102861_102862delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+17943_2185+17944delinsCT ENSP00000508399.1:n.2185+17943_2185+17944delinsCT
ENST00000682944.1:c.8061_8062delinsCT ENSP00000507173.1:p.Phe2687=
ENST00000683210.1:c.2185+17943_2185+17944delinsCT ENSP00000506739.1:n.2185+17943_2185+17944delinsCT
ENST00000683270.1:c.6445+1580_6445+1581delinsCT ENSP00000507624.1:n.6445+1580_6445+1581delinsCT
ENST00000683367.1:c.2177-6358_2177-6357delinsCT ENSP00000507780.1:n.2177-6358_2177-6357delinsCT
ENST00000683489.1:c.2291+5743_2291+5744delinsCT ENSP00000508403.1:n.2291+5743_2291+5744delinsCT
ENST00000683680.1:c.2318+5743_2318+5744delinsCT ENSP00000507223.1:n.2318+5743_2318+5744delinsCT
ENST00000684163.1:c.2204-6358_2204-6357delinsCT ENSP00000508262.1:n.2204-6358_2204-6357delinsCT
ENST00000684196.1:n.4543-6358_4543-6357delinsCT
ENST00000684325.1:c.2186-14168_2186-14167delinsCT ENSP00000508121.1:n.2186-14168_2186-14167delinsCT
ENST00000684385.1:c.2221-6358_2221-6357delinsCT ENSP00000507855.1:n.2221-6358_2221-6357delinsCT
ENST00000684497.1:c.2186-13198_2186-13197delinsCT ENSP00000507057.1:n.2186-13198_2186-13197delinsCT
ENST00000382292.9:c.8034_8035delinsCT MANE Select ENSP00000371729.3:p.Phe2678=
ENST00000423156.2:c.2186-6358_2186-6357delinsCT ENSP00000390925.2:n.2186-6358_2186-6357delinsCT
ENST00000455470.6:c.2431+5603_2431+5604delinsCT ENSP00000406565.2:n.2431+5603_2431+5604delinsCT
ENST00000382292.7:c.8034_8035delinsCT ENSP00000371729.3:p.Phe2678=
ENST00000382298.7:c.8034_8035delinsCT ENSP00000371735.3:p.Phe2678=
ENST00000402364.1:c.5784_5785delinsCT ENSP00000385844.1:p.Phe1928=
ENST00000423156.1:c.1058-6358_1058-6357delinsCT ENSP00000390925.1:n.1058-6358_1058-6357delinsCT
ENST00000455470.5:c.2129+5603_2129+5604delinsCT
NM_001278055.1:c.7593_7594delinsCT NP_001264984.1:p.Phe2531=
NM_014363.5:c.8034_8035delinsCT NP_055178.3:p.Phe2678=
XM_005266338.1:c.8061_8062delinsCT XP_005266395.1:p.Phe2687=
XM_011535038.1:c.8085_8086delinsCT XP_011533340.1:p.Phe2695=
XM_011535039.1:c.8052_8053delinsCT XP_011533341.1:p.Phe2684=
XM_005266338.2:c.8061_8062delinsCT XP_005266395.1:p.Phe2687=
XM_011535039.2:c.8052_8053delinsCT XP_011533341.1:p.Phe2684=
XM_017020539.1:c.8025_8026delinsCT XP_016876028.1:p.Phe2675=
XM_024449337.1:c.8061_8062delinsCT XP_024305105.1:p.Phe2687=
NM_014363.6:c.8034_8035delinsCT MANE Select NP_055178.3:p.Phe2678=
NM_001278055.2:c.7593_7594delinsCT NP_001264984.1:p.Phe2531=