Canonical Allele Identifier: CA6911924

Gene: SACS

Linked Data

• ClinVar Variation Id: 1453003
• ClinVar RCV Id: RCV002037806
• dbSNP Id: rs765667160
• ExAC: 13:23929379 T / TGC
• gnomAD v2: 13-23929379-T-TGC
• gnomAD v4: 13-23355240-T-TGC
• MyVariant Identifiers: chr13:g.23929379_23929380insGC (hg19) ; chr13:g.23355240_23355241insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355241_23355242dup , CM000675.2:g.23355241_23355242dup	GRCh38
NC_000013.10:g.23929380_23929381dup , CM000675.1:g.23929380_23929381dup	GRCh37
NC_000013.9:g.22827380_22827381dup	NCBI36
NG_012342.1:g.83461_83462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1370_1371dup	ENSP00000508399.1:p.Thr458AlafsTer21
ENST00000682944.1:c.1370_1371dup	ENSP00000507173.1:p.Thr458AlafsTer21
ENST00000683154.1:n.1508_1509dup
ENST00000683210.1:c.1370_1371dup	ENSP00000506739.1:p.Thr458AlafsTer21
ENST00000683270.1:c.1361_1362dup	ENSP00000507624.1:p.Thr455AlafsTer21
ENST00000683367.1:c.1361_1362dup	ENSP00000507780.1:p.Thr455AlafsTer21
ENST00000683489.1:c.1370_1371dup	ENSP00000508403.1:p.Thr458AlafsTer21
ENST00000683680.1:c.1370_1371dup	ENSP00000507223.1:p.Thr458AlafsTer21
ENST00000684163.1:c.1361_1362dup	ENSP00000508262.1:p.Thr455AlafsTer21
ENST00000684196.1:n.3727_3728dup
ENST00000684325.1:c.1370_1371dup	ENSP00000508121.1:p.Thr458AlafsTer21
ENST00000684385.1:c.1370_1371dup	ENSP00000507855.1:p.Thr458AlafsTer21
ENST00000684497.1:c.1370_1371dup	ENSP00000507057.1:p.Thr458AlafsTer21
ENST00000382292.9:c.1370_1371dup MANE Select	ENSP00000371729.3:p.Thr458AlafsTer21
ENST00000423156.2:c.1370_1371dup	ENSP00000390925.2:p.Thr458AlafsTer21
ENST00000455470.6:c.1370_1371dup	ENSP00000406565.2:p.Thr458AlafsTer21
ENST00000382292.7:c.1370_1371dup	ENSP00000371729.3:p.Thr458AlafsTer21
ENST00000382298.7:c.1370_1371dup	ENSP00000371735.3:p.Thr458AlafsTer21
ENST00000402364.1:c.-881_-880dup	ENSP00000385844.1:n.-881_-880dup
ENST00000423156.1:c.242_243dup	ENSP00000390925.1:p.Thr82AlafsTer21
ENST00000455470.5:c.1068_1069dup
NM_001278055.1:c.929_930dup	NP_001264984.1:p.Thr311AlafsTer21
NM_014363.5:c.1370_1371dup	NP_055178.3:p.Thr458AlafsTer21
XM_005266338.1:c.1370_1371dup	XP_005266395.1:p.Thr458AlafsTer21
XM_011535038.1:c.1394_1395dup	XP_011533340.1:p.Thr466AlafsTer21
XM_011535039.1:c.1361_1362dup	XP_011533341.1:p.Thr455AlafsTer21
XM_005266338.2:c.1370_1371dup	XP_005266395.1:p.Thr458AlafsTer21
XM_011535039.2:c.1361_1362dup	XP_011533341.1:p.Thr455AlafsTer21
XM_017020539.1:c.1361_1362dup	XP_016876028.1:p.Thr455AlafsTer21
XM_024449337.1:c.1370_1371dup	XP_024305105.1:p.Thr458AlafsTer21
NM_014363.6:c.1370_1371dup MANE Select	NP_055178.3:p.Thr458AlafsTer21
NM_001278055.2:c.929_930dup	NP_001264984.1:p.Thr311AlafsTer21