Canonical Allele Identifier: CA954042412

Gene: SACS

Linked Data

• dbSNP Id: rs1869110845

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340556del , CM000675.2:g.23340556del	GRCh38
NC_000013.10:g.23914695del , CM000675.1:g.23914695del	GRCh37
NC_000013.9:g.22812695del	NCBI36
NG_012342.1:g.98147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13229del	ENSP00000508399.1:n.2185+13229del
ENST00000682944.1:c.3347del	ENSP00000507173.1:p.Ala1116GlufsTer19
ENST00000683210.1:c.2185+13229del	ENSP00000506739.1:n.2185+13229del
ENST00000683270.1:c.3311del	ENSP00000507624.1:p.Ala1104GlufsTer19
ENST00000683367.1:c.2177-11072del	ENSP00000507780.1:n.2177-11072del
ENST00000683489.1:c.2291+1029del	ENSP00000508403.1:n.2291+1029del
ENST00000683680.1:c.2318+1029del	ENSP00000507223.1:n.2318+1029del
ENST00000684163.1:c.2203+6255del	ENSP00000508262.1:n.2203+6255del
ENST00000684196.1:n.4543-11072del
ENST00000684325.1:c.2185+13229del	ENSP00000508121.1:n.2185+13229del
ENST00000684385.1:c.2220+6255del	ENSP00000507855.1:n.2220+6255del
ENST00000684497.1:c.2185+13229del	ENSP00000507057.1:n.2185+13229del
ENST00000382292.9:c.3320del MANE Select	ENSP00000371729.3:p.Ala1107GlufsTer19
ENST00000423156.2:c.2186-11072del	ENSP00000390925.2:n.2186-11072del
ENST00000455470.6:c.2431+889del	ENSP00000406565.2:n.2431+889del
ENST00000382292.7:c.3320del	ENSP00000371729.3:p.Ala1107GlufsTer19
ENST00000382298.7:c.3320del	ENSP00000371735.3:p.Ala1107GlufsTer19
ENST00000402364.1:c.1070del	ENSP00000385844.1:p.Ala357GlufsTer19
ENST00000423156.1:c.1058-11072del	ENSP00000390925.1:n.1058-11072del
ENST00000455470.5:c.2129+889del
NM_001278055.1:c.2879del	NP_001264984.1:p.Ala960GlufsTer19
NM_014363.5:c.3320del	NP_055178.3:p.Ala1107GlufsTer19
XM_005266338.1:c.3347del	XP_005266395.1:p.Ala1116GlufsTer19
XM_011535038.1:c.3371del	XP_011533340.1:p.Ala1124GlufsTer19
XM_011535039.1:c.3338del	XP_011533341.1:p.Ala1113GlufsTer19
XM_005266338.2:c.3347del	XP_005266395.1:p.Ala1116GlufsTer19
XM_011535039.2:c.3338del	XP_011533341.1:p.Ala1113GlufsTer19
XM_017020539.1:c.3311del	XP_016876028.1:p.Ala1104GlufsTer19
XM_024449337.1:c.3347del	XP_024305105.1:p.Ala1116GlufsTer19
NM_014363.6:c.3320del MANE Select	NP_055178.3:p.Ala1107GlufsTer19
NM_001278055.2:c.2879del	NP_001264984.1:p.Ala960GlufsTer19