Canonical Allele Identifier: CA919226907

Gene: SACS

Linked Data

• dbSNP Id: rs1593128419

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337255dup , CM000675.2:g.23337255dup	GRCh38
NC_000013.10:g.23911394dup , CM000675.1:g.23911394dup	GRCh37
NC_000013.9:g.22809394dup	NCBI36
NG_012342.1:g.101448dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16530dup	ENSP00000508399.1:n.2185+16530dup
ENST00000682944.1:c.6648dup	ENSP00000507173.1:p.Ala2217CysfsTer28
ENST00000683210.1:c.2185+16530dup	ENSP00000506739.1:n.2185+16530dup
ENST00000683270.1:c.6445+167dup	ENSP00000507624.1:n.6445+167dup
ENST00000683367.1:c.2177-7771dup	ENSP00000507780.1:n.2177-7771dup
ENST00000683489.1:c.2291+4330dup	ENSP00000508403.1:n.2291+4330dup
ENST00000683680.1:c.2318+4330dup	ENSP00000507223.1:n.2318+4330dup
ENST00000684163.1:c.2204-7771dup	ENSP00000508262.1:n.2204-7771dup
ENST00000684196.1:n.4543-7771dup
ENST00000684325.1:c.2186-15581dup	ENSP00000508121.1:n.2186-15581dup
ENST00000684385.1:c.2221-7771dup	ENSP00000507855.1:n.2221-7771dup
ENST00000684497.1:c.2186-14611dup	ENSP00000507057.1:n.2186-14611dup
ENST00000382292.9:c.6621dup MANE Select	ENSP00000371729.3:p.Ala2208CysfsTer28
ENST00000423156.2:c.2186-7771dup	ENSP00000390925.2:n.2186-7771dup
ENST00000455470.6:c.2431+4190dup	ENSP00000406565.2:n.2431+4190dup
ENST00000382292.7:c.6621dup	ENSP00000371729.3:p.Ala2208CysfsTer28
ENST00000382298.7:c.6621dup	ENSP00000371735.3:p.Ala2208CysfsTer28
ENST00000402364.1:c.4371dup	ENSP00000385844.1:p.Ala1458CysfsTer28
ENST00000423156.1:c.1058-7771dup	ENSP00000390925.1:n.1058-7771dup
ENST00000455470.5:c.2129+4190dup
NM_001278055.1:c.6180dup	NP_001264984.1:p.Ala2061CysfsTer28
NM_014363.5:c.6621dup	NP_055178.3:p.Ala2208CysfsTer28
XM_005266338.1:c.6648dup	XP_005266395.1:p.Ala2217CysfsTer28
XM_011535038.1:c.6672dup	XP_011533340.1:p.Ala2225CysfsTer28
XM_011535039.1:c.6639dup	XP_011533341.1:p.Ala2214CysfsTer28
XM_005266338.2:c.6648dup	XP_005266395.1:p.Ala2217CysfsTer28
XM_011535039.2:c.6639dup	XP_011533341.1:p.Ala2214CysfsTer28
XM_017020539.1:c.6612dup	XP_016876028.1:p.Ala2205CysfsTer28
XM_024449337.1:c.6648dup	XP_024305105.1:p.Ala2217CysfsTer28
NM_014363.6:c.6621dup MANE Select	NP_055178.3:p.Ala2208CysfsTer28
NM_001278055.2:c.6180dup	NP_001264984.1:p.Ala2061CysfsTer28