Canonical Allele Identifier: CA2622329012

Gene: SACS

Linked Data

• gnomAD v4: 13-23336440-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336441dup , CM000675.2:g.23336441dup	GRCh38
NC_000013.10:g.23910580dup , CM000675.1:g.23910580dup	GRCh37
NC_000013.9:g.22808580dup	NCBI36
NG_012342.1:g.102262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17344dup	ENSP00000508399.1:n.2185+17344dup
ENST00000682944.1:c.7462dup	ENSP00000507173.1:p.Thr2488AsnfsTer9
ENST00000683210.1:c.2185+17344dup	ENSP00000506739.1:n.2185+17344dup
ENST00000683270.1:c.6445+981dup	ENSP00000507624.1:n.6445+981dup
ENST00000683367.1:c.2177-6957dup	ENSP00000507780.1:n.2177-6957dup
ENST00000683489.1:c.2291+5144dup	ENSP00000508403.1:n.2291+5144dup
ENST00000683680.1:c.2318+5144dup	ENSP00000507223.1:n.2318+5144dup
ENST00000684163.1:c.2204-6957dup	ENSP00000508262.1:n.2204-6957dup
ENST00000684196.1:n.4543-6957dup
ENST00000684325.1:c.2186-14767dup	ENSP00000508121.1:n.2186-14767dup
ENST00000684385.1:c.2221-6957dup	ENSP00000507855.1:n.2221-6957dup
ENST00000684497.1:c.2186-13797dup	ENSP00000507057.1:n.2186-13797dup
ENST00000382292.9:c.7435dup MANE Select	ENSP00000371729.3:p.Thr2479AsnfsTer9
ENST00000423156.2:c.2186-6957dup	ENSP00000390925.2:n.2186-6957dup
ENST00000455470.6:c.2431+5004dup	ENSP00000406565.2:n.2431+5004dup
ENST00000382292.7:c.7435dup	ENSP00000371729.3:p.Thr2479AsnfsTer9
ENST00000382298.7:c.7435dup	ENSP00000371735.3:p.Thr2479AsnfsTer9
ENST00000402364.1:c.5185dup	ENSP00000385844.1:p.Thr1729AsnfsTer9
ENST00000423156.1:c.1058-6957dup	ENSP00000390925.1:n.1058-6957dup
ENST00000455470.5:c.2129+5004dup
NM_001278055.1:c.6994dup	NP_001264984.1:p.Thr2332AsnfsTer9
NM_014363.5:c.7435dup	NP_055178.3:p.Thr2479AsnfsTer9
XM_005266338.1:c.7462dup	XP_005266395.1:p.Thr2488AsnfsTer9
XM_011535038.1:c.7486dup	XP_011533340.1:p.Thr2496AsnfsTer9
XM_011535039.1:c.7453dup	XP_011533341.1:p.Thr2485AsnfsTer9
XM_005266338.2:c.7462dup	XP_005266395.1:p.Thr2488AsnfsTer9
XM_011535039.2:c.7453dup	XP_011533341.1:p.Thr2485AsnfsTer9
XM_017020539.1:c.7426dup	XP_016876028.1:p.Thr2476AsnfsTer9
XM_024449337.1:c.7462dup	XP_024305105.1:p.Thr2488AsnfsTer9
NM_014363.6:c.7435dup MANE Select	NP_055178.3:p.Thr2479AsnfsTer9
NM_001278055.2:c.6994dup	NP_001264984.1:p.Thr2332AsnfsTer9