Canonical Allele Identifier: CA2994520965
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333864_23333865insAAATCTGTTCCAAA , CM000675.2:g.23333864_23333865insAAATCTGTTCCAAA GRCh38
NC_000013.10:g.23908003_23908004insAAATCTGTTCCAAA , CM000675.1:g.23908003_23908004insAAATCTGTTCCAAA GRCh37
NC_000013.9:g.22806003_22806004insAAATCTGTTCCAAA NCBI36
NG_012342.1:g.104839_104840insTTGGAACAGATTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19921_2185+19922insTTGGAACAGATTTT ENSP00000508399.1:n.2185+19921_2185+19922insTTGGAACAGATTTT
ENST00000682944.1:c.10039_10040insTTGGAACAGATTTT ENSP00000507173.1:p.Cys3347PhefsTer23
ENST00000683210.1:c.2185+19921_2185+19922insTTGGAACAGATTTT ENSP00000506739.1:n.2185+19921_2185+19922insTTGGAACAGATTTT
ENST00000683270.1:c.6445+3558_6445+3559insTTGGAACAGATTTT ENSP00000507624.1:n.6445+3558_6445+3559insTTGGAACAGATTTT
ENST00000683367.1:c.2177-4380_2177-4379insTTGGAACAGATTTT ENSP00000507780.1:n.2177-4380_2177-4379insTTGGAACAGATTTT
ENST00000683489.1:c.2292-3912_2292-3911insTTGGAACAGATTTT ENSP00000508403.1:n.2292-3912_2292-3911insTTGGAACAGATTTT
ENST00000683680.1:c.2319-3912_2319-3911insTTGGAACAGATTTT ENSP00000507223.1:n.2319-3912_2319-3911insTTGGAACAGATTTT
ENST00000684163.1:c.2204-4380_2204-4379insTTGGAACAGATTTT ENSP00000508262.1:n.2204-4380_2204-4379insTTGGAACAGATTTT
ENST00000684196.1:n.4543-4380_4543-4379insTTGGAACAGATTTT
ENST00000684325.1:c.2186-12190_2186-12189insTTGGAACAGATTTT ENSP00000508121.1:n.2186-12190_2186-12189insTTGGAACAGATTTT
ENST00000684385.1:c.2221-4380_2221-4379insTTGGAACAGATTTT ENSP00000507855.1:n.2221-4380_2221-4379insTTGGAACAGATTTT
ENST00000684497.1:c.2186-11220_2186-11219insTTGGAACAGATTTT ENSP00000507057.1:n.2186-11220_2186-11219insTTGGAACAGATTTT
ENST00000382292.9:c.10012_10013insTTGGAACAGATTTT MANE Select ENSP00000371729.3:p.Cys3338PhefsTer23
ENST00000423156.2:c.2186-4380_2186-4379insTTGGAACAGATTTT ENSP00000390925.2:n.2186-4380_2186-4379insTTGGAACAGATTTT
ENST00000455470.6:c.2432-4380_2432-4379insTTGGAACAGATTTT ENSP00000406565.2:n.2432-4380_2432-4379insTTGGAACAGATTTT
ENST00000382292.7:c.10012_10013insTTGGAACAGATTTT ENSP00000371729.3:p.Cys3338PhefsTer23
ENST00000382298.7:c.10012_10013insTTGGAACAGATTTT ENSP00000371735.3:p.Cys3338PhefsTer23
ENST00000402364.1:c.7762_7763insTTGGAACAGATTTT ENSP00000385844.1:p.Cys2588PhefsTer23
ENST00000423156.1:c.1058-4380_1058-4379insTTGGAACAGATTTT ENSP00000390925.1:n.1058-4380_1058-4379insTTGGAACAGATTTT
ENST00000455470.5:c.2130-4380_2130-4379insTTGGAACAGATTTT
NM_001278055.1:c.9571_9572insTTGGAACAGATTTT NP_001264984.1:p.Cys3191PhefsTer23
NM_014363.5:c.10012_10013insTTGGAACAGATTTT NP_055178.3:p.Cys3338PhefsTer23
XM_005266338.1:c.10039_10040insTTGGAACAGATTTT XP_005266395.1:p.Cys3347PhefsTer23
XM_011535038.1:c.10063_10064insTTGGAACAGATTTT XP_011533340.1:p.Cys3355PhefsTer23
XM_011535039.1:c.10030_10031insTTGGAACAGATTTT XP_011533341.1:p.Cys3344PhefsTer23
XM_005266338.2:c.10039_10040insTTGGAACAGATTTT XP_005266395.1:p.Cys3347PhefsTer23
XM_011535039.2:c.10030_10031insTTGGAACAGATTTT XP_011533341.1:p.Cys3344PhefsTer23
XM_017020539.1:c.10003_10004insTTGGAACAGATTTT XP_016876028.1:p.Cys3335PhefsTer23
XM_024449337.1:c.10039_10040insTTGGAACAGATTTT XP_024305105.1:p.Cys3347PhefsTer23
NM_014363.6:c.10012_10013insTTGGAACAGATTTT MANE Select NP_055178.3:p.Cys3338PhefsTer23
NM_001278055.2:c.9571_9572insTTGGAACAGATTTT NP_001264984.1:p.Cys3191PhefsTer23