Canonical Allele Identifier: CA2695199217

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678526
• ClinVar RCV Id: RCV003466336

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334216dup , CM000675.2:g.23334216dup	GRCh38
NC_000013.10:g.23908355dup , CM000675.1:g.23908355dup	GRCh37
NC_000013.9:g.22806355dup	NCBI36
NG_012342.1:g.104487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19569dup	ENSP00000508399.1:n.2185+19569dup
ENST00000682944.1:c.9687dup	ENSP00000507173.1:p.Val3230CysfsTer7
ENST00000683210.1:c.2185+19569dup	ENSP00000506739.1:n.2185+19569dup
ENST00000683270.1:c.6445+3206dup	ENSP00000507624.1:n.6445+3206dup
ENST00000683367.1:c.2177-4732dup	ENSP00000507780.1:n.2177-4732dup
ENST00000683489.1:c.2292-4264dup	ENSP00000508403.1:n.2292-4264dup
ENST00000683680.1:c.2319-4264dup	ENSP00000507223.1:n.2319-4264dup
ENST00000684163.1:c.2204-4732dup	ENSP00000508262.1:n.2204-4732dup
ENST00000684196.1:n.4543-4732dup
ENST00000684325.1:c.2186-12542dup	ENSP00000508121.1:n.2186-12542dup
ENST00000684385.1:c.2221-4732dup	ENSP00000507855.1:n.2221-4732dup
ENST00000684497.1:c.2186-11572dup	ENSP00000507057.1:n.2186-11572dup
ENST00000382292.9:c.9660dup MANE Select	ENSP00000371729.3:p.Val3221CysfsTer7
ENST00000423156.2:c.2186-4732dup	ENSP00000390925.2:n.2186-4732dup
ENST00000455470.6:c.2432-4732dup	ENSP00000406565.2:n.2432-4732dup
ENST00000382292.7:c.9660dup	ENSP00000371729.3:p.Val3221CysfsTer7
ENST00000382298.7:c.9660dup	ENSP00000371735.3:p.Val3221CysfsTer7
ENST00000402364.1:c.7410dup	ENSP00000385844.1:p.Val2471CysfsTer7
ENST00000423156.1:c.1058-4732dup	ENSP00000390925.1:n.1058-4732dup
ENST00000455470.5:c.2130-4732dup
NM_001278055.1:c.9219dup	NP_001264984.1:p.Val3074CysfsTer7
NM_014363.5:c.9660dup	NP_055178.3:p.Val3221CysfsTer7
XM_005266338.1:c.9687dup	XP_005266395.1:p.Val3230CysfsTer7
XM_011535038.1:c.9711dup	XP_011533340.1:p.Val3238CysfsTer7
XM_011535039.1:c.9678dup	XP_011533341.1:p.Val3227CysfsTer7
XM_005266338.2:c.9687dup	XP_005266395.1:p.Val3230CysfsTer7
XM_011535039.2:c.9678dup	XP_011533341.1:p.Val3227CysfsTer7
XM_017020539.1:c.9651dup	XP_016876028.1:p.Val3218CysfsTer7
XM_024449337.1:c.9687dup	XP_024305105.1:p.Val3230CysfsTer7
NM_014363.6:c.9660dup MANE Select	NP_055178.3:p.Val3221CysfsTer7
NM_001278055.2:c.9219dup	NP_001264984.1:p.Val3074CysfsTer7