Canonical Allele Identifier: CA2528148334

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355425_23355426insC , CM000675.2:g.23355425_23355426insC	GRCh38
NC_000013.10:g.23929564_23929565insC , CM000675.1:g.23929564_23929565insC	GRCh37
NC_000013.9:g.22827564_22827565insC	NCBI36
NG_012342.1:g.83277_83278insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1186_1187insG	ENSP00000508399.1:p.Asn396ArgfsTer10
ENST00000682944.1:c.1186_1187insG	ENSP00000507173.1:p.Asn396ArgfsTer10
ENST00000683154.1:n.1324_1325insG
ENST00000683210.1:c.1186_1187insG	ENSP00000506739.1:p.Asn396ArgfsTer10
ENST00000683270.1:c.1177_1178insG	ENSP00000507624.1:p.Asn393ArgfsTer10
ENST00000683367.1:c.1177_1178insG	ENSP00000507780.1:p.Asn393ArgfsTer10
ENST00000683489.1:c.1186_1187insG	ENSP00000508403.1:p.Asn396ArgfsTer10
ENST00000683680.1:c.1186_1187insG	ENSP00000507223.1:p.Asn396ArgfsTer10
ENST00000684163.1:c.1177_1178insG	ENSP00000508262.1:p.Asn393ArgfsTer10
ENST00000684196.1:n.3543_3544insG
ENST00000684325.1:c.1186_1187insG	ENSP00000508121.1:p.Asn396ArgfsTer10
ENST00000684385.1:c.1186_1187insG	ENSP00000507855.1:p.Asn396ArgfsTer10
ENST00000684497.1:c.1186_1187insG	ENSP00000507057.1:p.Asn396ArgfsTer10
ENST00000382292.9:c.1186_1187insG MANE Select	ENSP00000371729.3:p.Asn396ArgfsTer10
ENST00000423156.2:c.1186_1187insG	ENSP00000390925.2:p.Asn396ArgfsTer10
ENST00000455470.6:c.1186_1187insG	ENSP00000406565.2:p.Asn396ArgfsTer10
ENST00000382292.7:c.1186_1187insG	ENSP00000371729.3:p.Asn396ArgfsTer10
ENST00000382298.7:c.1186_1187insG	ENSP00000371735.3:p.Asn396ArgfsTer10
ENST00000402364.1:c.-1065_-1064insG	ENSP00000385844.1:n.-1065_-1064insG
ENST00000423156.1:c.58_59insG	ENSP00000390925.1:p.Asn20ArgfsTer10
ENST00000455470.5:c.884_885insG
NM_001278055.1:c.745_746insG	NP_001264984.1:p.Asn249ArgfsTer10
NM_014363.5:c.1186_1187insG	NP_055178.3:p.Asn396ArgfsTer10
XM_005266338.1:c.1186_1187insG	XP_005266395.1:p.Asn396ArgfsTer10
XM_011535038.1:c.1210_1211insG	XP_011533340.1:p.Asn404ArgfsTer10
XM_011535039.1:c.1177_1178insG	XP_011533341.1:p.Asn393ArgfsTer10
XM_005266338.2:c.1186_1187insG	XP_005266395.1:p.Asn396ArgfsTer10
XM_011535039.2:c.1177_1178insG	XP_011533341.1:p.Asn393ArgfsTer10
XM_017020539.1:c.1177_1178insG	XP_016876028.1:p.Asn393ArgfsTer10
XM_024449337.1:c.1186_1187insG	XP_024305105.1:p.Asn396ArgfsTer10
NM_014363.6:c.1186_1187insG MANE Select	NP_055178.3:p.Asn396ArgfsTer10
NM_001278055.2:c.745_746insG	NP_001264984.1:p.Asn249ArgfsTer10