Canonical Allele Identifier: CA2575369462

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334901dup , CM000675.2:g.23334901dup	GRCh38
NC_000013.10:g.23909040dup , CM000675.1:g.23909040dup	GRCh37
NC_000013.9:g.22807040dup	NCBI36
NG_012342.1:g.103805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18887dup	ENSP00000508399.1:n.2185+18887dup
ENST00000682944.1:c.9005dup	ENSP00000507173.1:p.Leu3002PhefsTer10
ENST00000683210.1:c.2185+18887dup	ENSP00000506739.1:n.2185+18887dup
ENST00000683270.1:c.6445+2524dup	ENSP00000507624.1:n.6445+2524dup
ENST00000683367.1:c.2177-5414dup	ENSP00000507780.1:n.2177-5414dup
ENST00000683489.1:c.2292-4946dup	ENSP00000508403.1:n.2292-4946dup
ENST00000683680.1:c.2319-4946dup	ENSP00000507223.1:n.2319-4946dup
ENST00000684163.1:c.2204-5414dup	ENSP00000508262.1:n.2204-5414dup
ENST00000684196.1:n.4543-5414dup
ENST00000684325.1:c.2186-13224dup	ENSP00000508121.1:n.2186-13224dup
ENST00000684385.1:c.2221-5414dup	ENSP00000507855.1:n.2221-5414dup
ENST00000684497.1:c.2186-12254dup	ENSP00000507057.1:n.2186-12254dup
ENST00000382292.9:c.8978dup MANE Select	ENSP00000371729.3:p.Leu2993PhefsTer10
ENST00000423156.2:c.2186-5414dup	ENSP00000390925.2:n.2186-5414dup
ENST00000455470.6:c.2432-5414dup	ENSP00000406565.2:n.2432-5414dup
ENST00000382292.7:c.8978dup	ENSP00000371729.3:p.Leu2993PhefsTer10
ENST00000382298.7:c.8978dup	ENSP00000371735.3:p.Leu2993PhefsTer10
ENST00000402364.1:c.6728dup	ENSP00000385844.1:p.Leu2243PhefsTer10
ENST00000423156.1:c.1058-5414dup	ENSP00000390925.1:n.1058-5414dup
ENST00000455470.5:c.2130-5414dup
NM_001278055.1:c.8537dup	NP_001264984.1:p.Leu2846PhefsTer10
NM_014363.5:c.8978dup	NP_055178.3:p.Leu2993PhefsTer10
XM_005266338.1:c.9005dup	XP_005266395.1:p.Leu3002PhefsTer10
XM_011535038.1:c.9029dup	XP_011533340.1:p.Leu3010PhefsTer10
XM_011535039.1:c.8996dup	XP_011533341.1:p.Leu2999PhefsTer10
XM_005266338.2:c.9005dup	XP_005266395.1:p.Leu3002PhefsTer10
XM_011535039.2:c.8996dup	XP_011533341.1:p.Leu2999PhefsTer10
XM_017020539.1:c.8969dup	XP_016876028.1:p.Leu2990PhefsTer10
XM_024449337.1:c.9005dup	XP_024305105.1:p.Leu3002PhefsTer10
NM_014363.6:c.8978dup MANE Select	NP_055178.3:p.Leu2993PhefsTer10
NM_001278055.2:c.8537dup	NP_001264984.1:p.Leu2846PhefsTer10