Canonical Allele Identifier: CA2078633095
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333370_23333375delinsATTCTT , CM000675.2:g.23333370_23333375delinsATTCTT GRCh38
NC_000013.10:g.23907509_23907514delinsATTCTT , CM000675.1:g.23907509_23907514delinsATTCTT GRCh37
NC_000013.9:g.22805509_22805514delinsATTCTT NCBI36
NG_012342.1:g.105328_105333delinsAAGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+20410_2185+20415delinsAAGAAT ENSP00000508399.1:n.2185+20410_2185+20415delinsAAGAAT
ENST00000682944.1:c.10528_10533delinsAAGAAT ENSP00000507173.1:p.Lys3510=
ENST00000683210.1:c.2185+20410_2185+20415delinsAAGAAT ENSP00000506739.1:n.2185+20410_2185+20415delinsAAGAAT
ENST00000683270.1:c.6446-3891_6446-3886delinsAAGAAT ENSP00000507624.1:n.6446-3891_6446-3886delinsAAGAAT
ENST00000683367.1:c.2177-3891_2177-3886delinsAAGAAT ENSP00000507780.1:n.2177-3891_2177-3886delinsAAGAAT
ENST00000683489.1:c.2292-3423_2292-3418delinsAAGAAT ENSP00000508403.1:n.2292-3423_2292-3418delinsAAGAAT
ENST00000683680.1:c.2319-3423_2319-3418delinsAAGAAT ENSP00000507223.1:n.2319-3423_2319-3418delinsAAGAAT
ENST00000684163.1:c.2204-3891_2204-3886delinsAAGAAT ENSP00000508262.1:n.2204-3891_2204-3886delinsAAGAAT
ENST00000684196.1:n.4543-3891_4543-3886delinsAAGAAT
ENST00000684325.1:c.2186-11701_2186-11696delinsAAGAAT ENSP00000508121.1:n.2186-11701_2186-11696delinsAAGAAT
ENST00000684385.1:c.2221-3891_2221-3886delinsAAGAAT ENSP00000507855.1:n.2221-3891_2221-3886delinsAAGAAT
ENST00000684497.1:c.2186-10731_2186-10726delinsAAGAAT ENSP00000507057.1:n.2186-10731_2186-10726delinsAAGAAT
ENST00000382292.9:c.10501_10506delinsAAGAAT MANE Select ENSP00000371729.3:p.Lys3501=
ENST00000423156.2:c.2186-3891_2186-3886delinsAAGAAT ENSP00000390925.2:n.2186-3891_2186-3886delinsAAGAAT
ENST00000455470.6:c.2432-3891_2432-3886delinsAAGAAT ENSP00000406565.2:n.2432-3891_2432-3886delinsAAGAAT
ENST00000382292.7:c.10501_10506delinsAAGAAT ENSP00000371729.3:p.Lys3501=
ENST00000382298.7:c.10501_10506delinsAAGAAT ENSP00000371735.3:p.Lys3501=
ENST00000402364.1:c.8251_8256delinsAAGAAT ENSP00000385844.1:p.Lys2751=
ENST00000423156.1:c.1058-3891_1058-3886delinsAAGAAT ENSP00000390925.1:n.1058-3891_1058-3886delinsAAGAAT
ENST00000455470.5:c.2130-3891_2130-3886delinsAAGAAT
NM_001278055.1:c.10060_10065delinsAAGAAT NP_001264984.1:p.Lys3354=
NM_014363.5:c.10501_10506delinsAAGAAT NP_055178.3:p.Lys3501=
XM_005266338.1:c.10528_10533delinsAAGAAT XP_005266395.1:p.Lys3510=
XM_011535038.1:c.10552_10557delinsAAGAAT XP_011533340.1:p.Lys3518=
XM_011535039.1:c.10519_10524delinsAAGAAT XP_011533341.1:p.Lys3507=
XM_005266338.2:c.10528_10533delinsAAGAAT XP_005266395.1:p.Lys3510=
XM_011535039.2:c.10519_10524delinsAAGAAT XP_011533341.1:p.Lys3507=
XM_017020539.1:c.10492_10497delinsAAGAAT XP_016876028.1:p.Lys3498=
XM_024449337.1:c.10528_10533delinsAAGAAT XP_024305105.1:p.Lys3510=
NM_014363.6:c.10501_10506delinsAAGAAT MANE Select NP_055178.3:p.Lys3501=
NM_001278055.2:c.10060_10065delinsAAGAAT NP_001264984.1:p.Lys3354=