Canonical Allele Identifier: CA6911905

Gene: SACS

Linked Data

• dbSNP Id: rs762353878
• ExAC: 13:23929231 G / GTAGCA
• gnomAD v4: 13-23355092-G-GTAGCA
• MyVariant Identifiers: chr13:g.23929231_23929232insTAGCA (hg19) ; chr13:g.23355092_23355093insTAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23355095_23355099dup , CM000675.2:g.23355095_23355099dup	GRCh38
NC_000013.10:g.23929234_23929238dup , CM000675.1:g.23929234_23929238dup	GRCh37
NC_000013.9:g.22827234_22827238dup	NCBI36
NG_012342.1:g.83606_83610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1515_1519dup	ENSP00000508399.1:p.Thr507MetfsTer4
ENST00000682944.1:c.1515_1519dup	ENSP00000507173.1:p.Thr507MetfsTer4
ENST00000683154.1:n.1653_1657dup
ENST00000683210.1:c.1515_1519dup	ENSP00000506739.1:p.Thr507MetfsTer4
ENST00000683270.1:c.1506_1510dup	ENSP00000507624.1:p.Thr504MetfsTer4
ENST00000683367.1:c.1506_1510dup	ENSP00000507780.1:p.Thr504MetfsTer4
ENST00000683489.1:c.1515_1519dup	ENSP00000508403.1:p.Thr507MetfsTer4
ENST00000683680.1:c.1515_1519dup	ENSP00000507223.1:p.Thr507MetfsTer4
ENST00000684163.1:c.1506_1510dup	ENSP00000508262.1:p.Thr504MetfsTer4
ENST00000684196.1:n.3872_3876dup
ENST00000684325.1:c.1515_1519dup	ENSP00000508121.1:p.Thr507MetfsTer4
ENST00000684385.1:c.1515_1519dup	ENSP00000507855.1:p.Thr507MetfsTer4
ENST00000684497.1:c.1515_1519dup	ENSP00000507057.1:p.Thr507MetfsTer4
ENST00000382292.9:c.1515_1519dup MANE Select	ENSP00000371729.3:p.Thr507MetfsTer4
ENST00000423156.2:c.1515_1519dup	ENSP00000390925.2:p.Thr507MetfsTer4
ENST00000455470.6:c.1515_1519dup	ENSP00000406565.2:p.Thr507MetfsTer4
ENST00000382292.7:c.1515_1519dup	ENSP00000371729.3:p.Thr507MetfsTer4
ENST00000382298.7:c.1515_1519dup	ENSP00000371735.3:p.Thr507MetfsTer4
ENST00000402364.1:c.-736_-732dup	ENSP00000385844.1:n.-736_-732dup
ENST00000423156.1:c.387_391dup	ENSP00000390925.1:p.Thr131MetfsTer4
ENST00000455470.5:c.1213_1217dup
NM_001278055.1:c.1074_1078dup	NP_001264984.1:p.Thr360MetfsTer4
NM_014363.5:c.1515_1519dup	NP_055178.3:p.Thr507MetfsTer4
XM_005266338.1:c.1515_1519dup	XP_005266395.1:p.Thr507MetfsTer4
XM_011535038.1:c.1539_1543dup	XP_011533340.1:p.Thr515MetfsTer4
XM_011535039.1:c.1506_1510dup	XP_011533341.1:p.Thr504MetfsTer4
XM_005266338.2:c.1515_1519dup	XP_005266395.1:p.Thr507MetfsTer4
XM_011535039.2:c.1506_1510dup	XP_011533341.1:p.Thr504MetfsTer4
XM_017020539.1:c.1506_1510dup	XP_016876028.1:p.Thr504MetfsTer4
XM_024449337.1:c.1515_1519dup	XP_024305105.1:p.Thr507MetfsTer4
NM_014363.6:c.1515_1519dup MANE Select	NP_055178.3:p.Thr507MetfsTer4
NM_001278055.2:c.1074_1078dup	NP_001264984.1:p.Thr360MetfsTer4