Canonical Allele Identifier: CA2697551683

Gene: SACS

Linked Data

• ClinVar Variation Id: 2744912
• ClinVar RCV Id: RCV003589287

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23332922del , CM000675.2:g.23332922del	GRCh38
NC_000013.10:g.23907061del , CM000675.1:g.23907061del	GRCh37
NC_000013.9:g.22805061del	NCBI36
NG_012342.1:g.105782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-20806del	ENSP00000508399.1:n.2186-20806del
ENST00000682944.1:c.10982del	ENSP00000507173.1:p.Pro3661HisfsTer22
ENST00000683210.1:c.2185+20864del	ENSP00000506739.1:n.2185+20864del
ENST00000683270.1:c.6446-3437del	ENSP00000507624.1:n.6446-3437del
ENST00000683367.1:c.2177-3437del	ENSP00000507780.1:n.2177-3437del
ENST00000683489.1:c.2292-2969del	ENSP00000508403.1:n.2292-2969del
ENST00000683680.1:c.2319-2969del	ENSP00000507223.1:n.2319-2969del
ENST00000684163.1:c.2204-3437del	ENSP00000508262.1:n.2204-3437del
ENST00000684196.1:n.4543-3437del
ENST00000684325.1:c.2186-11247del	ENSP00000508121.1:n.2186-11247del
ENST00000684385.1:c.2221-3437del	ENSP00000507855.1:n.2221-3437del
ENST00000684497.1:c.2186-10277del	ENSP00000507057.1:n.2186-10277del
ENST00000382292.9:c.10955del MANE Select	ENSP00000371729.3:p.Pro3652HisfsTer22
ENST00000423156.2:c.2186-3437del	ENSP00000390925.2:n.2186-3437del
ENST00000455470.6:c.2432-3437del	ENSP00000406565.2:n.2432-3437del
ENST00000382292.7:c.10955del	ENSP00000371729.3:p.Pro3652HisfsTer22
ENST00000382298.7:c.10955del	ENSP00000371735.3:p.Pro3652HisfsTer22
ENST00000402364.1:c.8705del	ENSP00000385844.1:p.Pro2902HisfsTer22
ENST00000423156.1:c.1058-3437del	ENSP00000390925.1:n.1058-3437del
ENST00000455470.5:c.2130-3437del
NM_001278055.1:c.10514del	NP_001264984.1:p.Pro3505HisfsTer22
NM_014363.5:c.10955del	NP_055178.3:p.Pro3652HisfsTer22
XM_005266338.1:c.10982del	XP_005266395.1:p.Pro3661HisfsTer22
XM_011535038.1:c.11006del	XP_011533340.1:p.Pro3669HisfsTer22
XM_011535039.1:c.10973del	XP_011533341.1:p.Pro3658HisfsTer22
XM_005266338.2:c.10982del	XP_005266395.1:p.Pro3661HisfsTer22
XM_011535039.2:c.10973del	XP_011533341.1:p.Pro3658HisfsTer22
XM_017020539.1:c.10946del	XP_016876028.1:p.Pro3649HisfsTer22
XM_024449337.1:c.10982del	XP_024305105.1:p.Pro3661HisfsTer22
NM_014363.6:c.10955del MANE Select	NP_055178.3:p.Pro3652HisfsTer22
NM_001278055.2:c.10514del	NP_001264984.1:p.Pro3505HisfsTer22