Canonical Allele Identifier: CA2798500259

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337261_23337262dup , CM000675.2:g.23337261_23337262dup	GRCh38
NC_000013.10:g.23911400_23911401dup , CM000675.1:g.23911400_23911401dup	GRCh37
NC_000013.9:g.22809400_22809401dup	NCBI36
NG_012342.1:g.101441_101442dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16523_2185+16524dup	ENSP00000508399.1:n.2185+16523_2185+16524dup
ENST00000682944.1:c.6641_6642dup	ENSP00000507173.1:p.Phe2215IlefsTer15
ENST00000683210.1:c.2185+16523_2185+16524dup	ENSP00000506739.1:n.2185+16523_2185+16524dup
ENST00000683270.1:c.6445+160_6445+161dup	ENSP00000507624.1:n.6445+160_6445+161dup
ENST00000683367.1:c.2177-7778_2177-7777dup	ENSP00000507780.1:n.2177-7778_2177-7777dup
ENST00000683489.1:c.2291+4323_2291+4324dup	ENSP00000508403.1:n.2291+4323_2291+4324dup
ENST00000683680.1:c.2318+4323_2318+4324dup	ENSP00000507223.1:n.2318+4323_2318+4324dup
ENST00000684163.1:c.2204-7778_2204-7777dup	ENSP00000508262.1:n.2204-7778_2204-7777dup
ENST00000684196.1:n.4543-7778_4543-7777dup
ENST00000684325.1:c.2186-15588_2186-15587dup	ENSP00000508121.1:n.2186-15588_2186-15587dup
ENST00000684385.1:c.2221-7778_2221-7777dup	ENSP00000507855.1:n.2221-7778_2221-7777dup
ENST00000684497.1:c.2186-14618_2186-14617dup	ENSP00000507057.1:n.2186-14618_2186-14617dup
ENST00000382292.9:c.6614_6615dup MANE Select	ENSP00000371729.3:p.Phe2206IlefsTer15
ENST00000423156.2:c.2186-7778_2186-7777dup	ENSP00000390925.2:n.2186-7778_2186-7777dup
ENST00000455470.6:c.2431+4183_2431+4184dup	ENSP00000406565.2:n.2431+4183_2431+4184dup
ENST00000382292.7:c.6614_6615dup	ENSP00000371729.3:p.Phe2206IlefsTer15
ENST00000382298.7:c.6614_6615dup	ENSP00000371735.3:p.Phe2206IlefsTer15
ENST00000402364.1:c.4364_4365dup	ENSP00000385844.1:p.Phe1456IlefsTer15
ENST00000423156.1:c.1058-7778_1058-7777dup	ENSP00000390925.1:n.1058-7778_1058-7777dup
ENST00000455470.5:c.2129+4183_2129+4184dup
NM_001278055.1:c.6173_6174dup	NP_001264984.1:p.Phe2059IlefsTer15
NM_014363.5:c.6614_6615dup	NP_055178.3:p.Phe2206IlefsTer15
XM_005266338.1:c.6641_6642dup	XP_005266395.1:p.Phe2215IlefsTer15
XM_011535038.1:c.6665_6666dup	XP_011533340.1:p.Phe2223IlefsTer15
XM_011535039.1:c.6632_6633dup	XP_011533341.1:p.Phe2212IlefsTer15
XM_005266338.2:c.6641_6642dup	XP_005266395.1:p.Phe2215IlefsTer15
XM_011535039.2:c.6632_6633dup	XP_011533341.1:p.Phe2212IlefsTer15
XM_017020539.1:c.6605_6606dup	XP_016876028.1:p.Phe2203IlefsTer15
XM_024449337.1:c.6641_6642dup	XP_024305105.1:p.Phe2215IlefsTer15
NM_014363.6:c.6614_6615dup MANE Select	NP_055178.3:p.Phe2206IlefsTer15
NM_001278055.2:c.6173_6174dup	NP_001264984.1:p.Phe2059IlefsTer15