Canonical Allele Identifier: CA2524050114

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334080dup , CM000675.2:g.23334080dup	GRCh38
NC_000013.10:g.23908219dup , CM000675.1:g.23908219dup	GRCh37
NC_000013.9:g.22806219dup	NCBI36
NG_012342.1:g.104624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19706dup	ENSP00000508399.1:n.2185+19706dup
ENST00000682944.1:c.9824dup	ENSP00000507173.1:p.Thr3276AsnfsTer3
ENST00000683210.1:c.2185+19706dup	ENSP00000506739.1:n.2185+19706dup
ENST00000683270.1:c.6445+3343dup	ENSP00000507624.1:n.6445+3343dup
ENST00000683367.1:c.2177-4595dup	ENSP00000507780.1:n.2177-4595dup
ENST00000683489.1:c.2292-4127dup	ENSP00000508403.1:n.2292-4127dup
ENST00000683680.1:c.2319-4127dup	ENSP00000507223.1:n.2319-4127dup
ENST00000684163.1:c.2204-4595dup	ENSP00000508262.1:n.2204-4595dup
ENST00000684196.1:n.4543-4595dup
ENST00000684325.1:c.2186-12405dup	ENSP00000508121.1:n.2186-12405dup
ENST00000684385.1:c.2221-4595dup	ENSP00000507855.1:n.2221-4595dup
ENST00000684497.1:c.2186-11435dup	ENSP00000507057.1:n.2186-11435dup
ENST00000382292.9:c.9797dup MANE Select	ENSP00000371729.3:p.Thr3267AsnfsTer3
ENST00000423156.2:c.2186-4595dup	ENSP00000390925.2:n.2186-4595dup
ENST00000455470.6:c.2432-4595dup	ENSP00000406565.2:n.2432-4595dup
ENST00000382292.7:c.9797dup	ENSP00000371729.3:p.Thr3267AsnfsTer3
ENST00000382298.7:c.9797dup	ENSP00000371735.3:p.Thr3267AsnfsTer3
ENST00000402364.1:c.7547dup	ENSP00000385844.1:p.Thr2517AsnfsTer3
ENST00000423156.1:c.1058-4595dup	ENSP00000390925.1:n.1058-4595dup
ENST00000455470.5:c.2130-4595dup
NM_001278055.1:c.9356dup	NP_001264984.1:p.Thr3120AsnfsTer3
NM_014363.5:c.9797dup	NP_055178.3:p.Thr3267AsnfsTer3
XM_005266338.1:c.9824dup	XP_005266395.1:p.Thr3276AsnfsTer3
XM_011535038.1:c.9848dup	XP_011533340.1:p.Thr3284AsnfsTer3
XM_011535039.1:c.9815dup	XP_011533341.1:p.Thr3273AsnfsTer3
XM_005266338.2:c.9824dup	XP_005266395.1:p.Thr3276AsnfsTer3
XM_011535039.2:c.9815dup	XP_011533341.1:p.Thr3273AsnfsTer3
XM_017020539.1:c.9788dup	XP_016876028.1:p.Thr3264AsnfsTer3
XM_024449337.1:c.9824dup	XP_024305105.1:p.Thr3276AsnfsTer3
NM_014363.6:c.9797dup MANE Select	NP_055178.3:p.Thr3267AsnfsTer3
NM_001278055.2:c.9356dup	NP_001264984.1:p.Thr3120AsnfsTer3