Canonical Allele Identifier: CA2575369404

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331661dup , CM000675.2:g.23331661dup	GRCh38
NC_000013.10:g.23905800dup , CM000675.1:g.23905800dup	GRCh37
NC_000013.9:g.22803800dup	NCBI36
NG_012342.1:g.107042dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-19546dup	ENSP00000508399.1:n.2186-19546dup
ENST00000682944.1:c.12242dup	ENSP00000507173.1:p.Ala4083CysfsTer8
ENST00000683210.1:c.2185+22124dup	ENSP00000506739.1:n.2185+22124dup
ENST00000683270.1:c.6446-2177dup	ENSP00000507624.1:n.6446-2177dup
ENST00000683367.1:c.2177-2177dup	ENSP00000507780.1:n.2177-2177dup
ENST00000683489.1:c.2292-1709dup	ENSP00000508403.1:n.2292-1709dup
ENST00000683680.1:c.2319-1709dup	ENSP00000507223.1:n.2319-1709dup
ENST00000684163.1:c.2204-2177dup	ENSP00000508262.1:n.2204-2177dup
ENST00000684196.1:n.4543-2177dup
ENST00000684325.1:c.2186-9987dup	ENSP00000508121.1:n.2186-9987dup
ENST00000684385.1:c.2221-2177dup	ENSP00000507855.1:n.2221-2177dup
ENST00000684497.1:c.2186-9017dup	ENSP00000507057.1:n.2186-9017dup
ENST00000382292.9:c.12215dup MANE Select	ENSP00000371729.3:p.Ala4074CysfsTer8
ENST00000423156.2:c.2186-2177dup	ENSP00000390925.2:n.2186-2177dup
ENST00000455470.6:c.2432-2177dup	ENSP00000406565.2:n.2432-2177dup
ENST00000382292.7:c.12215dup	ENSP00000371729.3:p.Ala4074CysfsTer8
ENST00000382298.7:c.12215dup	ENSP00000371735.3:p.Ala4074CysfsTer8
ENST00000402364.1:c.9965dup	ENSP00000385844.1:p.Ala3324CysfsTer8
ENST00000423156.1:c.1058-2177dup	ENSP00000390925.1:n.1058-2177dup
ENST00000455470.5:c.2130-2177dup
NM_001278055.1:c.11774dup	NP_001264984.1:p.Ala3927CysfsTer8
NM_014363.5:c.12215dup	NP_055178.3:p.Ala4074CysfsTer8
XM_005266338.1:c.12242dup	XP_005266395.1:p.Ala4083CysfsTer8
XM_011535038.1:c.12266dup	XP_011533340.1:p.Ala4091CysfsTer8
XM_011535039.1:c.12233dup	XP_011533341.1:p.Ala4080CysfsTer8
XM_005266338.2:c.12242dup	XP_005266395.1:p.Ala4083CysfsTer8
XM_011535039.2:c.12233dup	XP_011533341.1:p.Ala4080CysfsTer8
XM_017020539.1:c.12206dup	XP_016876028.1:p.Ala4071CysfsTer8
XM_024449337.1:c.12242dup	XP_024305105.1:p.Ala4083CysfsTer8
NM_014363.6:c.12215dup MANE Select	NP_055178.3:p.Ala4074CysfsTer8
NM_001278055.2:c.11774dup	NP_001264984.1:p.Ala3927CysfsTer8