Canonical Allele Identifier: CA2078658437

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355269_23355270delinsAG , CM000675.2:g.23355269_23355270delinsAG	GRCh38
NC_000013.10:g.23929408_23929409delinsAG , CM000675.1:g.23929408_23929409delinsAG	GRCh37
NC_000013.9:g.22827408_22827409delinsAG	NCBI36
NG_012342.1:g.83433_83434delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1342_1343delinsCT	ENSP00000508399.1:p.Leu448=
ENST00000682944.1:c.1342_1343delinsCT	ENSP00000507173.1:p.Leu448=
ENST00000683154.1:n.1480_1481delinsCT
ENST00000683210.1:c.1342_1343delinsCT	ENSP00000506739.1:p.Leu448=
ENST00000683270.1:c.1333_1334delinsCT	ENSP00000507624.1:p.Leu445=
ENST00000683367.1:c.1333_1334delinsCT	ENSP00000507780.1:p.Leu445=
ENST00000683489.1:c.1342_1343delinsCT	ENSP00000508403.1:p.Leu448=
ENST00000683680.1:c.1342_1343delinsCT	ENSP00000507223.1:p.Leu448=
ENST00000684163.1:c.1333_1334delinsCT	ENSP00000508262.1:p.Leu445=
ENST00000684196.1:n.3699_3700delinsCT
ENST00000684325.1:c.1342_1343delinsCT	ENSP00000508121.1:p.Leu448=
ENST00000684385.1:c.1342_1343delinsCT	ENSP00000507855.1:p.Leu448=
ENST00000684497.1:c.1342_1343delinsCT	ENSP00000507057.1:p.Leu448=
ENST00000382292.9:c.1342_1343delinsCT MANE Select	ENSP00000371729.3:p.Leu448=
ENST00000423156.2:c.1342_1343delinsCT	ENSP00000390925.2:p.Leu448=
ENST00000455470.6:c.1342_1343delinsCT	ENSP00000406565.2:p.Leu448=
ENST00000382292.7:c.1342_1343delinsCT	ENSP00000371729.3:p.Leu448=
ENST00000382298.7:c.1342_1343delinsCT	ENSP00000371735.3:p.Leu448=
ENST00000402364.1:c.-909_-908delinsCT	ENSP00000385844.1:n.-909_-908delinsCT
ENST00000423156.1:c.214_215delinsCT	ENSP00000390925.1:p.Leu72=
ENST00000455470.5:c.1040_1041delinsCT
NM_001278055.1:c.901_902delinsCT	NP_001264984.1:p.Leu301=
NM_014363.5:c.1342_1343delinsCT	NP_055178.3:p.Leu448=
XM_005266338.1:c.1342_1343delinsCT	XP_005266395.1:p.Leu448=
XM_011535038.1:c.1366_1367delinsCT	XP_011533340.1:p.Leu456=
XM_011535039.1:c.1333_1334delinsCT	XP_011533341.1:p.Leu445=
XM_005266338.2:c.1342_1343delinsCT	XP_005266395.1:p.Leu448=
XM_011535039.2:c.1333_1334delinsCT	XP_011533341.1:p.Leu445=
XM_017020539.1:c.1333_1334delinsCT	XP_016876028.1:p.Leu445=
XM_024449337.1:c.1342_1343delinsCT	XP_024305105.1:p.Leu448=
NM_014363.6:c.1342_1343delinsCT MANE Select	NP_055178.3:p.Leu448=
NM_001278055.2:c.901_902delinsCT	NP_001264984.1:p.Leu301=