Canonical Allele Identifier: CA916083347

Gene: SACS

Linked Data

• ClinVar Variation Id: 847067
• ClinVar RCV Id: RCV001050533
• dbSNP Id: rs1868628768

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336624_23336628del , CM000675.2:g.23336624_23336628del	GRCh38
NC_000013.10:g.23910763_23910767del , CM000675.1:g.23910763_23910767del	GRCh37
NC_000013.9:g.22808763_22808767del	NCBI36
NG_012342.1:g.102077_102081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17159_2185+17163del	ENSP00000508399.1:n.2185+17159_2185+17163del
ENST00000682944.1:c.7277_7281del	ENSP00000507173.1:p.Thr2426ArgfsTer12
ENST00000683210.1:c.2185+17159_2185+17163del	ENSP00000506739.1:n.2185+17159_2185+17163del
ENST00000683270.1:c.6445+796_6445+800del	ENSP00000507624.1:n.6445+796_6445+800del
ENST00000683367.1:c.2177-7142_2177-7138del	ENSP00000507780.1:n.2177-7142_2177-7138del
ENST00000683489.1:c.2291+4959_2291+4963del	ENSP00000508403.1:n.2291+4959_2291+4963del
ENST00000683680.1:c.2318+4959_2318+4963del	ENSP00000507223.1:n.2318+4959_2318+4963del
ENST00000684163.1:c.2204-7142_2204-7138del	ENSP00000508262.1:n.2204-7142_2204-7138del
ENST00000684196.1:n.4543-7142_4543-7138del
ENST00000684325.1:c.2186-14952_2186-14948del	ENSP00000508121.1:n.2186-14952_2186-14948del
ENST00000684385.1:c.2221-7142_2221-7138del	ENSP00000507855.1:n.2221-7142_2221-7138del
ENST00000684497.1:c.2186-13982_2186-13978del	ENSP00000507057.1:n.2186-13982_2186-13978del
ENST00000382292.9:c.7250_7254del MANE Select	ENSP00000371729.3:p.Thr2417ArgfsTer12
ENST00000423156.2:c.2186-7142_2186-7138del	ENSP00000390925.2:n.2186-7142_2186-7138del
ENST00000455470.6:c.2431+4819_2431+4823del	ENSP00000406565.2:n.2431+4819_2431+4823del
ENST00000382292.7:c.7250_7254del	ENSP00000371729.3:p.Thr2417ArgfsTer12
ENST00000382298.7:c.7250_7254del	ENSP00000371735.3:p.Thr2417ArgfsTer12
ENST00000402364.1:c.5000_5004del	ENSP00000385844.1:p.Thr1667ArgfsTer12
ENST00000423156.1:c.1058-7142_1058-7138del	ENSP00000390925.1:n.1058-7142_1058-7138del
ENST00000455470.5:c.2129+4819_2129+4823del
NM_001278055.1:c.6809_6813del	NP_001264984.1:p.Thr2270ArgfsTer12
NM_014363.5:c.7250_7254del	NP_055178.3:p.Thr2417ArgfsTer12
XM_005266338.1:c.7277_7281del	XP_005266395.1:p.Thr2426ArgfsTer12
XM_011535038.1:c.7301_7305del	XP_011533340.1:p.Thr2434ArgfsTer12
XM_011535039.1:c.7268_7272del	XP_011533341.1:p.Thr2423ArgfsTer12
XM_005266338.2:c.7277_7281del	XP_005266395.1:p.Thr2426ArgfsTer12
XM_011535039.2:c.7268_7272del	XP_011533341.1:p.Thr2423ArgfsTer12
XM_017020539.1:c.7241_7245del	XP_016876028.1:p.Thr2414ArgfsTer12
XM_024449337.1:c.7277_7281del	XP_024305105.1:p.Thr2426ArgfsTer12
NM_014363.6:c.7250_7254del MANE Select	NP_055178.3:p.Thr2417ArgfsTer12
NM_001278055.2:c.6809_6813del	NP_001264984.1:p.Thr2270ArgfsTer12