Canonical Allele Identifier: CA2078627611
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337441_23337443delinsCAA , CM000675.2:g.23337441_23337443delinsCAA GRCh38
NC_000013.10:g.23911580_23911582delinsCAA , CM000675.1:g.23911580_23911582delinsCAA GRCh37
NC_000013.9:g.22809580_22809582delinsCAA NCBI36
NG_012342.1:g.101260_101262delinsTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16342_2185+16344delinsTTG ENSP00000508399.1:n.2185+16342_2185+16344...
ENST00000682944.1:c.6460_6462delinsTTG ENSP00000507173.1:p.Leu2154=
ENST00000683210.1:c.2185+16342_2185+16344delinsTTG ENSP00000506739.1:n.2185+16342_2185+16344...
ENST00000683270.1:c.6424_6426delinsTTG ENSP00000507624.1:p.Leu2142=
ENST00000683367.1:c.2177-7959_2177-7957delinsTTG ENSP00000507780.1:n.2177-7959_2177-7957de...
ENST00000683489.1:c.2291+4142_2291+4144delinsTTG ENSP00000508403.1:n.2291+4142_2291+4144de...
ENST00000683680.1:c.2318+4142_2318+4144delinsTTG ENSP00000507223.1:n.2318+4142_2318+4144de...
ENST00000684163.1:c.2204-7959_2204-7957delinsTTG ENSP00000508262.1:n.2204-7959_2204-7957de...
ENST00000684196.1:n.4543-7959_4543-7957delinsTTG
ENST00000684325.1:c.2186-15769_2186-15767delinsTTG ENSP00000508121.1:n.2186-15769_2186-15767...
ENST00000684385.1:c.2221-7959_2221-7957delinsTTG ENSP00000507855.1:n.2221-7959_2221-7957de...
ENST00000684497.1:c.2186-14799_2186-14797delinsTTG ENSP00000507057.1:n.2186-14799_2186-14797...
ENST00000382292.9:c.6433_6435delinsTTG MANE Select ENSP00000371729.3:p.Leu2145=
ENST00000423156.2:c.2186-7959_2186-7957delinsTTG ENSP00000390925.2:n.2186-7959_2186-7957de...
ENST00000455470.6:c.2431+4002_2431+4004delinsTTG ENSP00000406565.2:n.2431+4002_2431+4004de...
ENST00000382292.7:c.6433_6435delinsTTG ENSP00000371729.3:p.Leu2145=
ENST00000382298.7:c.6433_6435delinsTTG ENSP00000371735.3:p.Leu2145=
ENST00000402364.1:c.4183_4185delinsTTG ENSP00000385844.1:p.Leu1395=
ENST00000423156.1:c.1058-7959_1058-7957delinsTTG ENSP00000390925.1:n.1058-7959_1058-7957de...
ENST00000455470.5:c.2129+4002_2129+4004delinsTTG
NM_001278055.1:c.5992_5994delinsTTG NP_001264984.1:p.Leu1998=
NM_014363.5:c.6433_6435delinsTTG NP_055178.3:p.Leu2145=
XM_005266338.1:c.6460_6462delinsTTG XP_005266395.1:p.Leu2154=
XM_011535038.1:c.6484_6486delinsTTG XP_011533340.1:p.Leu2162=
XM_011535039.1:c.6451_6453delinsTTG XP_011533341.1:p.Leu2151=
XM_005266338.2:c.6460_6462delinsTTG XP_005266395.1:p.Leu2154=
XM_011535039.2:c.6451_6453delinsTTG XP_011533341.1:p.Leu2151=
XM_017020539.1:c.6424_6426delinsTTG XP_016876028.1:p.Leu2142=
XM_024449337.1:c.6460_6462delinsTTG XP_024305105.1:p.Leu2154=
NM_014363.6:c.6433_6435delinsTTG MANE Select NP_055178.3:p.Leu2145=
NM_001278055.2:c.5992_5994delinsTTG NP_001264984.1:p.Leu1998=