Canonical Allele Identifier: CA2078658665

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355423_23355424delinsTG , CM000675.2:g.23355423_23355424delinsTG	GRCh38
NC_000013.10:g.23929562_23929563delinsTG , CM000675.1:g.23929562_23929563delinsTG	GRCh37
NC_000013.9:g.22827562_22827563delinsTG	NCBI36
NG_012342.1:g.83279_83280delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.1188_1189delinsCA	ENSP00000508399.1:p.Asn396=
ENST00000682944.1:c.1188_1189delinsCA	ENSP00000507173.1:p.Asn396=
ENST00000683154.1:n.1326_1327delinsCA
ENST00000683210.1:c.1188_1189delinsCA	ENSP00000506739.1:p.Asn396=
ENST00000683270.1:c.1179_1180delinsCA	ENSP00000507624.1:p.Asn393=
ENST00000683367.1:c.1179_1180delinsCA	ENSP00000507780.1:p.Asn393=
ENST00000683489.1:c.1188_1189delinsCA	ENSP00000508403.1:p.Asn396=
ENST00000683680.1:c.1188_1189delinsCA	ENSP00000507223.1:p.Asn396=
ENST00000684163.1:c.1179_1180delinsCA	ENSP00000508262.1:p.Asn393=
ENST00000684196.1:n.3545_3546delinsCA
ENST00000684325.1:c.1188_1189delinsCA	ENSP00000508121.1:p.Asn396=
ENST00000684385.1:c.1188_1189delinsCA	ENSP00000507855.1:p.Asn396=
ENST00000684497.1:c.1188_1189delinsCA	ENSP00000507057.1:p.Asn396=
ENST00000382292.9:c.1188_1189delinsCA MANE Select	ENSP00000371729.3:p.Asn396=
ENST00000423156.2:c.1188_1189delinsCA	ENSP00000390925.2:p.Asn396=
ENST00000455470.6:c.1188_1189delinsCA	ENSP00000406565.2:p.Asn396=
ENST00000382292.7:c.1188_1189delinsCA	ENSP00000371729.3:p.Asn396=
ENST00000382298.7:c.1188_1189delinsCA	ENSP00000371735.3:p.Asn396=
ENST00000402364.1:c.-1063_-1062delinsCA	ENSP00000385844.1:n.-1063_-1062delinsCA
ENST00000423156.1:c.60_61delinsCA	ENSP00000390925.1:p.Asn20=
ENST00000455470.5:c.886_887delinsCA
NM_001278055.1:c.747_748delinsCA	NP_001264984.1:p.Asn249=
NM_014363.5:c.1188_1189delinsCA	NP_055178.3:p.Asn396=
XM_005266338.1:c.1188_1189delinsCA	XP_005266395.1:p.Asn396=
XM_011535038.1:c.1212_1213delinsCA	XP_011533340.1:p.Asn404=
XM_011535039.1:c.1179_1180delinsCA	XP_011533341.1:p.Asn393=
XM_005266338.2:c.1188_1189delinsCA	XP_005266395.1:p.Asn396=
XM_011535039.2:c.1179_1180delinsCA	XP_011533341.1:p.Asn393=
XM_017020539.1:c.1179_1180delinsCA	XP_016876028.1:p.Asn393=
XM_024449337.1:c.1188_1189delinsCA	XP_024305105.1:p.Asn396=
NM_014363.6:c.1188_1189delinsCA MANE Select	NP_055178.3:p.Asn396=
NM_001278055.2:c.747_748delinsCA	NP_001264984.1:p.Asn249=