Canonical Allele Identifier: CA916083346

Gene: SACS

Linked Data

• ClinVar Variation Id: 843447
• ClinVar RCV Id: RCV001046076
• dbSNP Id: rs1868567420

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336110_23336113dup , CM000675.2:g.23336110_23336113dup	GRCh38
NC_000013.10:g.23910249_23910252dup , CM000675.1:g.23910249_23910252dup	GRCh37
NC_000013.9:g.22808249_22808252dup	NCBI36
NG_012342.1:g.102591_102594dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17673_2185+17676dup	ENSP00000508399.1:n.2185+17673_2185+17676dup
ENST00000682944.1:c.7791_7794dup	ENSP00000507173.1:p.Val2599LeufsTer12
ENST00000683210.1:c.2185+17673_2185+17676dup	ENSP00000506739.1:n.2185+17673_2185+17676dup
ENST00000683270.1:c.6445+1310_6445+1313dup	ENSP00000507624.1:n.6445+1310_6445+1313dup
ENST00000683367.1:c.2177-6628_2177-6625dup	ENSP00000507780.1:n.2177-6628_2177-6625dup
ENST00000683489.1:c.2291+5473_2291+5476dup	ENSP00000508403.1:n.2291+5473_2291+5476dup
ENST00000683680.1:c.2318+5473_2318+5476dup	ENSP00000507223.1:n.2318+5473_2318+5476dup
ENST00000684163.1:c.2204-6628_2204-6625dup	ENSP00000508262.1:n.2204-6628_2204-6625dup
ENST00000684196.1:n.4543-6628_4543-6625dup
ENST00000684325.1:c.2186-14438_2186-14435dup	ENSP00000508121.1:n.2186-14438_2186-14435dup
ENST00000684385.1:c.2221-6628_2221-6625dup	ENSP00000507855.1:n.2221-6628_2221-6625dup
ENST00000684497.1:c.2186-13468_2186-13465dup	ENSP00000507057.1:n.2186-13468_2186-13465dup
ENST00000382292.9:c.7764_7767dup MANE Select	ENSP00000371729.3:p.Val2590LeufsTer12
ENST00000423156.2:c.2186-6628_2186-6625dup	ENSP00000390925.2:n.2186-6628_2186-6625dup
ENST00000455470.6:c.2431+5333_2431+5336dup	ENSP00000406565.2:n.2431+5333_2431+5336dup
ENST00000382292.7:c.7764_7767dup	ENSP00000371729.3:p.Val2590LeufsTer12
ENST00000382298.7:c.7764_7767dup	ENSP00000371735.3:p.Val2590LeufsTer12
ENST00000402364.1:c.5514_5517dup	ENSP00000385844.1:p.Val1840LeufsTer12
ENST00000423156.1:c.1058-6628_1058-6625dup	ENSP00000390925.1:n.1058-6628_1058-6625dup
ENST00000455470.5:c.2129+5333_2129+5336dup
NM_001278055.1:c.7323_7326dup	NP_001264984.1:p.Val2443LeufsTer12
NM_014363.5:c.7764_7767dup	NP_055178.3:p.Val2590LeufsTer12
XM_005266338.1:c.7791_7794dup	XP_005266395.1:p.Val2599LeufsTer12
XM_011535038.1:c.7815_7818dup	XP_011533340.1:p.Val2607LeufsTer12
XM_011535039.1:c.7782_7785dup	XP_011533341.1:p.Val2596LeufsTer12
XM_005266338.2:c.7791_7794dup	XP_005266395.1:p.Val2599LeufsTer12
XM_011535039.2:c.7782_7785dup	XP_011533341.1:p.Val2596LeufsTer12
XM_017020539.1:c.7755_7758dup	XP_016876028.1:p.Val2587LeufsTer12
XM_024449337.1:c.7791_7794dup	XP_024305105.1:p.Val2599LeufsTer12
NM_014363.6:c.7764_7767dup MANE Select	NP_055178.3:p.Val2590LeufsTer12
NM_001278055.2:c.7323_7326dup	NP_001264984.1:p.Val2443LeufsTer12