Canonical Allele Identifier: CA2573149133

Gene: SACS

Linked Data

• ClinVar Variation Id: 1431119
• ClinVar RCV Id: RCV001931657
• dbSNP Id: rs2137603643

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336750dup , CM000675.2:g.23336750dup	GRCh38
NC_000013.10:g.23910889dup , CM000675.1:g.23910889dup	GRCh37
NC_000013.9:g.22808889dup	NCBI36
NG_012342.1:g.101954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17036dup	ENSP00000508399.1:n.2185+17036dup
ENST00000682944.1:c.7154dup	ENSP00000507173.1:p.Asn2385LysfsTer2
ENST00000683210.1:c.2185+17036dup	ENSP00000506739.1:n.2185+17036dup
ENST00000683270.1:c.6445+673dup	ENSP00000507624.1:n.6445+673dup
ENST00000683367.1:c.2177-7265dup	ENSP00000507780.1:n.2177-7265dup
ENST00000683489.1:c.2291+4836dup	ENSP00000508403.1:n.2291+4836dup
ENST00000683680.1:c.2318+4836dup	ENSP00000507223.1:n.2318+4836dup
ENST00000684163.1:c.2204-7265dup	ENSP00000508262.1:n.2204-7265dup
ENST00000684196.1:n.4543-7265dup
ENST00000684325.1:c.2186-15075dup	ENSP00000508121.1:n.2186-15075dup
ENST00000684385.1:c.2221-7265dup	ENSP00000507855.1:n.2221-7265dup
ENST00000684497.1:c.2186-14105dup	ENSP00000507057.1:n.2186-14105dup
ENST00000382292.9:c.7127dup MANE Select	ENSP00000371729.3:p.Asn2376LysfsTer2
ENST00000423156.2:c.2186-7265dup	ENSP00000390925.2:n.2186-7265dup
ENST00000455470.6:c.2431+4696dup	ENSP00000406565.2:n.2431+4696dup
ENST00000382292.7:c.7127dup	ENSP00000371729.3:p.Asn2376LysfsTer2
ENST00000382298.7:c.7127dup	ENSP00000371735.3:p.Asn2376LysfsTer2
ENST00000402364.1:c.4877dup	ENSP00000385844.1:p.Asn1626LysfsTer2
ENST00000423156.1:c.1058-7265dup	ENSP00000390925.1:n.1058-7265dup
ENST00000455470.5:c.2129+4696dup
NM_001278055.1:c.6686dup	NP_001264984.1:p.Asn2229LysfsTer2
NM_014363.5:c.7127dup	NP_055178.3:p.Asn2376LysfsTer2
XM_005266338.1:c.7154dup	XP_005266395.1:p.Asn2385LysfsTer2
XM_011535038.1:c.7178dup	XP_011533340.1:p.Asn2393LysfsTer2
XM_011535039.1:c.7145dup	XP_011533341.1:p.Asn2382LysfsTer2
XM_005266338.2:c.7154dup	XP_005266395.1:p.Asn2385LysfsTer2
XM_011535039.2:c.7145dup	XP_011533341.1:p.Asn2382LysfsTer2
XM_017020539.1:c.7118dup	XP_016876028.1:p.Asn2373LysfsTer2
XM_024449337.1:c.7154dup	XP_024305105.1:p.Asn2385LysfsTer2
NM_014363.6:c.7127dup MANE Select	NP_055178.3:p.Asn2376LysfsTer2
NM_001278055.2:c.6686dup	NP_001264984.1:p.Asn2229LysfsTer2