Canonical Allele Identifier: CA2832528996

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337760_23337763dup , CM000675.2:g.23337760_23337763dup	GRCh38
NC_000013.10:g.23911899_23911902dup , CM000675.1:g.23911899_23911902dup	GRCh37
NC_000013.9:g.22809899_22809902dup	NCBI36
NG_012342.1:g.100941_100944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16023_2185+16026dup	ENSP00000508399.1:n.2185+16023_2185+16026dup
ENST00000682944.1:c.6141_6144dup	ENSP00000507173.1:p.Ala2049ArgfsTer10
ENST00000683210.1:c.2185+16023_2185+16026dup	ENSP00000506739.1:n.2185+16023_2185+16026dup
ENST00000683270.1:c.6105_6108dup	ENSP00000507624.1:p.Ala2037ArgfsTer10
ENST00000683367.1:c.2177-8278_2177-8275dup	ENSP00000507780.1:n.2177-8278_2177-8275dup
ENST00000683489.1:c.2291+3823_2291+3826dup	ENSP00000508403.1:n.2291+3823_2291+3826dup
ENST00000683680.1:c.2318+3823_2318+3826dup	ENSP00000507223.1:n.2318+3823_2318+3826dup
ENST00000684163.1:c.2204-8278_2204-8275dup	ENSP00000508262.1:n.2204-8278_2204-8275dup
ENST00000684196.1:n.4543-8278_4543-8275dup
ENST00000684325.1:c.2185+16023_2185+16026dup	ENSP00000508121.1:n.2185+16023_2185+16026dup
ENST00000684385.1:c.2221-8278_2221-8275dup	ENSP00000507855.1:n.2221-8278_2221-8275dup
ENST00000684497.1:c.2186-15118_2186-15115dup	ENSP00000507057.1:n.2186-15118_2186-15115dup
ENST00000382292.9:c.6114_6117dup MANE Select	ENSP00000371729.3:p.Ala2040ArgfsTer10
ENST00000423156.2:c.2186-8278_2186-8275dup	ENSP00000390925.2:n.2186-8278_2186-8275dup
ENST00000455470.6:c.2431+3683_2431+3686dup	ENSP00000406565.2:n.2431+3683_2431+3686dup
ENST00000382292.7:c.6114_6117dup	ENSP00000371729.3:p.Ala2040ArgfsTer10
ENST00000382298.7:c.6114_6117dup	ENSP00000371735.3:p.Ala2040ArgfsTer10
ENST00000402364.1:c.3864_3867dup	ENSP00000385844.1:p.Ala1290ArgfsTer10
ENST00000423156.1:c.1058-8278_1058-8275dup	ENSP00000390925.1:n.1058-8278_1058-8275dup
ENST00000455470.5:c.2129+3683_2129+3686dup
NM_001278055.1:c.5673_5676dup	NP_001264984.1:p.Ala1893ArgfsTer10
NM_014363.5:c.6114_6117dup	NP_055178.3:p.Ala2040ArgfsTer10
XM_005266338.1:c.6141_6144dup	XP_005266395.1:p.Ala2049ArgfsTer10
XM_011535038.1:c.6165_6168dup	XP_011533340.1:p.Ala2057ArgfsTer10
XM_011535039.1:c.6132_6135dup	XP_011533341.1:p.Ala2046ArgfsTer10
XM_005266338.2:c.6141_6144dup	XP_005266395.1:p.Ala2049ArgfsTer10
XM_011535039.2:c.6132_6135dup	XP_011533341.1:p.Ala2046ArgfsTer10
XM_017020539.1:c.6105_6108dup	XP_016876028.1:p.Ala2037ArgfsTer10
XM_024449337.1:c.6141_6144dup	XP_024305105.1:p.Ala2049ArgfsTer10
NM_014363.6:c.6114_6117dup MANE Select	NP_055178.3:p.Ala2040ArgfsTer10
NM_001278055.2:c.5673_5676dup	NP_001264984.1:p.Ala1893ArgfsTer10