Canonical Allele Identifier: CA2078658717

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355464_23355465delinsCT , CM000675.2:g.23355464_23355465delinsCT	GRCh38
NC_000013.10:g.23929603_23929604delinsCT , CM000675.1:g.23929603_23929604delinsCT	GRCh37
NC_000013.9:g.22827603_22827604delinsCT	NCBI36
NG_012342.1:g.83238_83239delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1147_1148delinsAG	ENSP00000508399.1:p.Ser383=
ENST00000682944.1:c.1147_1148delinsAG	ENSP00000507173.1:p.Ser383=
ENST00000683154.1:n.1285_1286delinsAG
ENST00000683210.1:c.1147_1148delinsAG	ENSP00000506739.1:p.Ser383=
ENST00000683270.1:c.1138_1139delinsAG	ENSP00000507624.1:p.Ser380=
ENST00000683367.1:c.1138_1139delinsAG	ENSP00000507780.1:p.Ser380=
ENST00000683489.1:c.1147_1148delinsAG	ENSP00000508403.1:p.Ser383=
ENST00000683680.1:c.1147_1148delinsAG	ENSP00000507223.1:p.Ser383=
ENST00000684163.1:c.1138_1139delinsAG	ENSP00000508262.1:p.Ser380=
ENST00000684196.1:n.3504_3505delinsAG
ENST00000684325.1:c.1147_1148delinsAG	ENSP00000508121.1:p.Ser383=
ENST00000684385.1:c.1147_1148delinsAG	ENSP00000507855.1:p.Ser383=
ENST00000684497.1:c.1147_1148delinsAG	ENSP00000507057.1:p.Ser383=
ENST00000382292.9:c.1147_1148delinsAG MANE Select	ENSP00000371729.3:p.Ser383=
ENST00000423156.2:c.1147_1148delinsAG	ENSP00000390925.2:p.Ser383=
ENST00000455470.6:c.1147_1148delinsAG	ENSP00000406565.2:p.Ser383=
ENST00000382292.7:c.1147_1148delinsAG	ENSP00000371729.3:p.Ser383=
ENST00000382298.7:c.1147_1148delinsAG	ENSP00000371735.3:p.Ser383=
ENST00000402364.1:c.-1104_-1103delinsAG	ENSP00000385844.1:n.-1104_-1103delinsAG
ENST00000423156.1:c.19_20delinsAG	ENSP00000390925.1:p.Ser7=
ENST00000455470.5:c.845_846delinsAG
NM_001278055.1:c.706_707delinsAG	NP_001264984.1:p.Ser236=
NM_014363.5:c.1147_1148delinsAG	NP_055178.3:p.Ser383=
XM_005266338.1:c.1147_1148delinsAG	XP_005266395.1:p.Ser383=
XM_011535038.1:c.1171_1172delinsAG	XP_011533340.1:p.Ser391=
XM_011535039.1:c.1138_1139delinsAG	XP_011533341.1:p.Ser380=
XM_005266338.2:c.1147_1148delinsAG	XP_005266395.1:p.Ser383=
XM_011535039.2:c.1138_1139delinsAG	XP_011533341.1:p.Ser380=
XM_017020539.1:c.1138_1139delinsAG	XP_016876028.1:p.Ser380=
XM_024449337.1:c.1147_1148delinsAG	XP_024305105.1:p.Ser383=
NM_014363.6:c.1147_1148delinsAG MANE Select	NP_055178.3:p.Ser383=
NM_001278055.2:c.706_707delinsAG	NP_001264984.1:p.Ser236=