Canonical Allele Identifier: CA2078658440

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355271_23355273delinsGAA , CM000675.2:g.23355271_23355273delinsGAA	GRCh38
NC_000013.10:g.23929410_23929412delinsGAA , CM000675.1:g.23929410_23929412delinsGAA	GRCh37
NC_000013.9:g.22827410_22827412delinsGAA	NCBI36
NG_012342.1:g.83430_83432delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1339_1341delinsTTC	ENSP00000508399.1:p.Phe447=
ENST00000682944.1:c.1339_1341delinsTTC	ENSP00000507173.1:p.Phe447=
ENST00000683154.1:n.1477_1479delinsTTC
ENST00000683210.1:c.1339_1341delinsTTC	ENSP00000506739.1:p.Phe447=
ENST00000683270.1:c.1330_1332delinsTTC	ENSP00000507624.1:p.Phe444=
ENST00000683367.1:c.1330_1332delinsTTC	ENSP00000507780.1:p.Phe444=
ENST00000683489.1:c.1339_1341delinsTTC	ENSP00000508403.1:p.Phe447=
ENST00000683680.1:c.1339_1341delinsTTC	ENSP00000507223.1:p.Phe447=
ENST00000684163.1:c.1330_1332delinsTTC	ENSP00000508262.1:p.Phe444=
ENST00000684196.1:n.3696_3698delinsTTC
ENST00000684325.1:c.1339_1341delinsTTC	ENSP00000508121.1:p.Phe447=
ENST00000684385.1:c.1339_1341delinsTTC	ENSP00000507855.1:p.Phe447=
ENST00000684497.1:c.1339_1341delinsTTC	ENSP00000507057.1:p.Phe447=
ENST00000382292.9:c.1339_1341delinsTTC MANE Select	ENSP00000371729.3:p.Phe447=
ENST00000423156.2:c.1339_1341delinsTTC	ENSP00000390925.2:p.Phe447=
ENST00000455470.6:c.1339_1341delinsTTC	ENSP00000406565.2:p.Phe447=
ENST00000382292.7:c.1339_1341delinsTTC	ENSP00000371729.3:p.Phe447=
ENST00000382298.7:c.1339_1341delinsTTC	ENSP00000371735.3:p.Phe447=
ENST00000402364.1:c.-912_-910delinsTTC	ENSP00000385844.1:n.-912_-910delinsTTC
ENST00000423156.1:c.211_213delinsTTC	ENSP00000390925.1:p.Phe71=
ENST00000455470.5:c.1037_1039delinsTTC
NM_001278055.1:c.898_900delinsTTC	NP_001264984.1:p.Phe300=
NM_014363.5:c.1339_1341delinsTTC	NP_055178.3:p.Phe447=
XM_005266338.1:c.1339_1341delinsTTC	XP_005266395.1:p.Phe447=
XM_011535038.1:c.1363_1365delinsTTC	XP_011533340.1:p.Phe455=
XM_011535039.1:c.1330_1332delinsTTC	XP_011533341.1:p.Phe444=
XM_005266338.2:c.1339_1341delinsTTC	XP_005266395.1:p.Phe447=
XM_011535039.2:c.1330_1332delinsTTC	XP_011533341.1:p.Phe444=
XM_017020539.1:c.1330_1332delinsTTC	XP_016876028.1:p.Phe444=
XM_024449337.1:c.1339_1341delinsTTC	XP_024305105.1:p.Phe447=
NM_014363.6:c.1339_1341delinsTTC MANE Select	NP_055178.3:p.Phe447=
NM_001278055.2:c.898_900delinsTTC	NP_001264984.1:p.Phe300=