Canonical Allele Identifier: CA2078658332

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355191_23355192delinsCG , CM000675.2:g.23355191_23355192delinsCG	GRCh38
NC_000013.10:g.23929330_23929331delinsCG , CM000675.1:g.23929330_23929331delinsCG	GRCh37
NC_000013.9:g.22827330_22827331delinsCG	NCBI36
NG_012342.1:g.83511_83512delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1420_1421delinsCG	ENSP00000508399.1:p.Arg474=
ENST00000682944.1:c.1420_1421delinsCG	ENSP00000507173.1:p.Arg474=
ENST00000683154.1:n.1558_1559delinsCG
ENST00000683210.1:c.1420_1421delinsCG	ENSP00000506739.1:p.Arg474=
ENST00000683270.1:c.1411_1412delinsCG	ENSP00000507624.1:p.Arg471=
ENST00000683367.1:c.1411_1412delinsCG	ENSP00000507780.1:p.Arg471=
ENST00000683489.1:c.1420_1421delinsCG	ENSP00000508403.1:p.Arg474=
ENST00000683680.1:c.1420_1421delinsCG	ENSP00000507223.1:p.Arg474=
ENST00000684163.1:c.1411_1412delinsCG	ENSP00000508262.1:p.Arg471=
ENST00000684196.1:n.3777_3778delinsCG
ENST00000684325.1:c.1420_1421delinsCG	ENSP00000508121.1:p.Arg474=
ENST00000684385.1:c.1420_1421delinsCG	ENSP00000507855.1:p.Arg474=
ENST00000684497.1:c.1420_1421delinsCG	ENSP00000507057.1:p.Arg474=
ENST00000382292.9:c.1420_1421delinsCG MANE Select	ENSP00000371729.3:p.Arg474=
ENST00000423156.2:c.1420_1421delinsCG	ENSP00000390925.2:p.Arg474=
ENST00000455470.6:c.1420_1421delinsCG	ENSP00000406565.2:p.Arg474=
ENST00000382292.7:c.1420_1421delinsCG	ENSP00000371729.3:p.Arg474=
ENST00000382298.7:c.1420_1421delinsCG	ENSP00000371735.3:p.Arg474=
ENST00000402364.1:c.-831_-830delinsCG	ENSP00000385844.1:n.-831_-830delinsCG
ENST00000423156.1:c.292_293delinsCG	ENSP00000390925.1:p.Arg98=
ENST00000455470.5:c.1118_1119delinsCG
NM_001278055.1:c.979_980delinsCG	NP_001264984.1:p.Arg327=
NM_014363.5:c.1420_1421delinsCG	NP_055178.3:p.Arg474=
XM_005266338.1:c.1420_1421delinsCG	XP_005266395.1:p.Arg474=
XM_011535038.1:c.1444_1445delinsCG	XP_011533340.1:p.Arg482=
XM_011535039.1:c.1411_1412delinsCG	XP_011533341.1:p.Arg471=
XM_005266338.2:c.1420_1421delinsCG	XP_005266395.1:p.Arg474=
XM_011535039.2:c.1411_1412delinsCG	XP_011533341.1:p.Arg471=
XM_017020539.1:c.1411_1412delinsCG	XP_016876028.1:p.Arg471=
XM_024449337.1:c.1420_1421delinsCG	XP_024305105.1:p.Arg474=
NM_014363.6:c.1420_1421delinsCG MANE Select	NP_055178.3:p.Arg474=
NM_001278055.2:c.979_980delinsCG	NP_001264984.1:p.Arg327=