Canonical Allele Identifier: CA2622331274

Gene: SACS

Linked Data

• gnomAD v4: 13-23354898-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354899_23354900del , CM000675.2:g.23354899_23354900del	GRCh38
NC_000013.10:g.23929038_23929039del , CM000675.1:g.23929038_23929039del	GRCh37
NC_000013.9:g.22827038_22827039del	NCBI36
NG_012342.1:g.83803_83804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1712_1713del	ENSP00000508399.1:p.Arg571IlefsTer10
ENST00000682944.1:c.1712_1713del	ENSP00000507173.1:p.Arg571IlefsTer10
ENST00000683154.1:n.1850_1851del
ENST00000683210.1:c.1712_1713del	ENSP00000506739.1:p.Arg571IlefsTer10
ENST00000683270.1:c.1703_1704del	ENSP00000507624.1:p.Arg568IlefsTer10
ENST00000683367.1:c.1703_1704del	ENSP00000507780.1:p.Arg568IlefsTer10
ENST00000683489.1:c.1712_1713del	ENSP00000508403.1:p.Arg571IlefsTer10
ENST00000683680.1:c.1712_1713del	ENSP00000507223.1:p.Arg571IlefsTer10
ENST00000684163.1:c.1703_1704del	ENSP00000508262.1:p.Arg568IlefsTer10
ENST00000684196.1:n.4069_4070del
ENST00000684325.1:c.1712_1713del	ENSP00000508121.1:p.Arg571IlefsTer10
ENST00000684385.1:c.1712_1713del	ENSP00000507855.1:p.Arg571IlefsTer10
ENST00000684497.1:c.1712_1713del	ENSP00000507057.1:p.Arg571IlefsTer10
ENST00000382292.9:c.1712_1713del MANE Select	ENSP00000371729.3:p.Arg571IlefsTer10
ENST00000423156.2:c.1712_1713del	ENSP00000390925.2:p.Arg571IlefsTer10
ENST00000455470.6:c.1712_1713del	ENSP00000406565.2:p.Arg571IlefsTer10
ENST00000382292.7:c.1712_1713del	ENSP00000371729.3:p.Arg571IlefsTer10
ENST00000382298.7:c.1712_1713del	ENSP00000371735.3:p.Arg571IlefsTer10
ENST00000402364.1:c.-539_-538del	ENSP00000385844.1:n.-539_-538del
ENST00000423156.1:c.584_585del	ENSP00000390925.1:p.Arg195IlefsTer10
ENST00000455470.5:c.1410_1411del
NM_001278055.1:c.1271_1272del	NP_001264984.1:p.Arg424IlefsTer10
NM_014363.5:c.1712_1713del	NP_055178.3:p.Arg571IlefsTer10
XM_005266338.1:c.1712_1713del	XP_005266395.1:p.Arg571IlefsTer10
XM_011535038.1:c.1736_1737del	XP_011533340.1:p.Arg579IlefsTer10
XM_011535039.1:c.1703_1704del	XP_011533341.1:p.Arg568IlefsTer10
XM_005266338.2:c.1712_1713del	XP_005266395.1:p.Arg571IlefsTer10
XM_011535039.2:c.1703_1704del	XP_011533341.1:p.Arg568IlefsTer10
XM_017020539.1:c.1703_1704del	XP_016876028.1:p.Arg568IlefsTer10
XM_024449337.1:c.1712_1713del	XP_024305105.1:p.Arg571IlefsTer10
NM_014363.6:c.1712_1713del MANE Select	NP_055178.3:p.Arg571IlefsTer10
NM_001278055.2:c.1271_1272del	NP_001264984.1:p.Arg424IlefsTer10