Canonical Allele Identifier: CA645591578

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678568
• ClinVar RCV Id: RCV003466378
• gnomAD v4: 13-23331346-T-TA
• COSMIC: COSM4615529 ; COSM4615530

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331352dup , CM000675.2:g.23331352dup	GRCh38
NC_000013.10:g.23905491dup , CM000675.1:g.23905491dup	GRCh37
NC_000013.9:g.22803491dup	NCBI36
NG_012342.1:g.107356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19232dup	ENSP00000508399.1:n.2186-19232dup
ENST00000682944.1:c.12556dup	ENSP00000507173.1:p.Tyr4186LeufsTer11
ENST00000683210.1:c.2185+22438dup	ENSP00000506739.1:n.2185+22438dup
ENST00000683270.1:c.6446-1863dup	ENSP00000507624.1:n.6446-1863dup
ENST00000683367.1:c.2177-1863dup	ENSP00000507780.1:n.2177-1863dup
ENST00000683489.1:c.2292-1395dup	ENSP00000508403.1:n.2292-1395dup
ENST00000683680.1:c.2319-1395dup	ENSP00000507223.1:n.2319-1395dup
ENST00000684163.1:c.2204-1863dup	ENSP00000508262.1:n.2204-1863dup
ENST00000684196.1:n.4543-1863dup
ENST00000684325.1:c.2186-9673dup	ENSP00000508121.1:n.2186-9673dup
ENST00000684385.1:c.2221-1863dup	ENSP00000507855.1:n.2221-1863dup
ENST00000684497.1:c.2186-8703dup	ENSP00000507057.1:n.2186-8703dup
ENST00000382292.9:c.12529dup MANE Select	ENSP00000371729.3:p.Tyr4177LeufsTer11
ENST00000423156.2:c.2186-1863dup	ENSP00000390925.2:n.2186-1863dup
ENST00000455470.6:c.2432-1863dup	ENSP00000406565.2:n.2432-1863dup
ENST00000382292.7:c.12529dup	ENSP00000371729.3:p.Tyr4177LeufsTer11
ENST00000382298.7:c.12529dup	ENSP00000371735.3:p.Tyr4177LeufsTer11
ENST00000402364.1:c.10279dup	ENSP00000385844.1:p.Tyr3427LeufsTer11
ENST00000423156.1:c.1058-1863dup	ENSP00000390925.1:n.1058-1863dup
ENST00000455470.5:c.2130-1863dup
NM_001278055.1:c.12088dup	NP_001264984.1:p.Tyr4030LeufsTer11
NM_014363.5:c.12529dup	NP_055178.3:p.Tyr4177LeufsTer11
XM_005266338.1:c.12556dup	XP_005266395.1:p.Tyr4186LeufsTer11
XM_011535038.1:c.12580dup	XP_011533340.1:p.Tyr4194LeufsTer11
XM_011535039.1:c.12547dup	XP_011533341.1:p.Tyr4183LeufsTer11
XM_005266338.2:c.12556dup	XP_005266395.1:p.Tyr4186LeufsTer11
XM_011535039.2:c.12547dup	XP_011533341.1:p.Tyr4183LeufsTer11
XM_017020539.1:c.12520dup	XP_016876028.1:p.Tyr4174LeufsTer11
XM_024449337.1:c.12556dup	XP_024305105.1:p.Tyr4186LeufsTer11
NM_014363.6:c.12529dup MANE Select	NP_055178.3:p.Tyr4177LeufsTer11
NM_001278055.2:c.12088dup	NP_001264984.1:p.Tyr4030LeufsTer11