Canonical Allele Identifier: CA2078628963
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331021_23331025delinsGCTCT , CM000675.2:g.23331021_23331025delinsGCTCT GRCh38
NC_000013.10:g.23905160_23905164delinsGCTCT , CM000675.1:g.23905160_23905164delinsGCTCT GRCh37
NC_000013.9:g.22803160_22803164delinsGCTCT NCBI36
NG_012342.1:g.107678_107682delinsAGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18910_2186-18906delinsAGAGC ENSP00000508399.1:n.2186-18910_2186-18906delinsAGAGC
ENST00000682944.1:c.12878_12882delinsAGAGC ENSP00000507173.1:p.Glu4293=
ENST00000683210.1:c.2185+22760_2185+22764delinsAGAGC ENSP00000506739.1:n.2185+22760_2185+22764delinsAGAGC
ENST00000683270.1:c.6446-1541_6446-1537delinsAGAGC ENSP00000507624.1:n.6446-1541_6446-1537delinsAGAGC
ENST00000683367.1:c.2177-1541_2177-1537delinsAGAGC ENSP00000507780.1:n.2177-1541_2177-1537delinsAGAGC
ENST00000683489.1:c.2292-1073_2292-1069delinsAGAGC ENSP00000508403.1:n.2292-1073_2292-1069delinsAGAGC
ENST00000683680.1:c.2319-1073_2319-1069delinsAGAGC ENSP00000507223.1:n.2319-1073_2319-1069delinsAGAGC
ENST00000684163.1:c.2204-1541_2204-1537delinsAGAGC ENSP00000508262.1:n.2204-1541_2204-1537delinsAGAGC
ENST00000684196.1:n.4543-1541_4543-1537delinsAGAGC
ENST00000684325.1:c.2186-9351_2186-9347delinsAGAGC ENSP00000508121.1:n.2186-9351_2186-9347delinsAGAGC
ENST00000684385.1:c.2221-1541_2221-1537delinsAGAGC ENSP00000507855.1:n.2221-1541_2221-1537delinsAGAGC
ENST00000684497.1:c.2186-8381_2186-8377delinsAGAGC ENSP00000507057.1:n.2186-8381_2186-8377delinsAGAGC
ENST00000382292.9:c.12851_12855delinsAGAGC MANE Select ENSP00000371729.3:p.Glu4284=
ENST00000423156.2:c.2186-1541_2186-1537delinsAGAGC ENSP00000390925.2:n.2186-1541_2186-1537delinsAGAGC
ENST00000455470.6:c.2432-1541_2432-1537delinsAGAGC ENSP00000406565.2:n.2432-1541_2432-1537delinsAGAGC
ENST00000382292.7:c.12851_12855delinsAGAGC ENSP00000371729.3:p.Glu4284=
ENST00000382298.7:c.12851_12855delinsAGAGC ENSP00000371735.3:p.Glu4284=
ENST00000402364.1:c.10601_10605delinsAGAGC ENSP00000385844.1:p.Glu3534=
ENST00000423156.1:c.1058-1541_1058-1537delinsAGAGC ENSP00000390925.1:n.1058-1541_1058-1537delinsAGAGC
ENST00000455470.5:c.2130-1541_2130-1537delinsAGAGC
NM_001278055.1:c.12410_12414delinsAGAGC NP_001264984.1:p.Glu4137=
NM_014363.5:c.12851_12855delinsAGAGC NP_055178.3:p.Glu4284=
XM_005266338.1:c.12878_12882delinsAGAGC XP_005266395.1:p.Glu4293=
XM_011535038.1:c.12902_12906delinsAGAGC XP_011533340.1:p.Glu4301=
XM_011535039.1:c.12869_12873delinsAGAGC XP_011533341.1:p.Glu4290=
XM_005266338.2:c.12878_12882delinsAGAGC XP_005266395.1:p.Glu4293=
XM_011535039.2:c.12869_12873delinsAGAGC XP_011533341.1:p.Glu4290=
XM_017020539.1:c.12842_12846delinsAGAGC XP_016876028.1:p.Glu4281=
XM_024449337.1:c.12878_12882delinsAGAGC XP_024305105.1:p.Glu4293=
NM_014363.6:c.12851_12855delinsAGAGC MANE Select NP_055178.3:p.Glu4284=
NM_001278055.2:c.12410_12414delinsAGAGC NP_001264984.1:p.Glu4137=