Canonical Allele Identifier: CA2622331275

Gene: SACS

Linked Data

• ClinVar Variation Id: 2903498
• ClinVar RCV Id: RCV003751257
• gnomAD v4: 13-23354918-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354920del , CM000675.2:g.23354920del	GRCh38
NC_000013.10:g.23929059del , CM000675.1:g.23929059del	GRCh37
NC_000013.9:g.22827059del	NCBI36
NG_012342.1:g.83784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1693del	ENSP00000508399.1:p.Ile565LeufsTer20
ENST00000682944.1:c.1693del	ENSP00000507173.1:p.Ile565LeufsTer20
ENST00000683154.1:n.1831del
ENST00000683210.1:c.1693del	ENSP00000506739.1:p.Ile565LeufsTer20
ENST00000683270.1:c.1684del	ENSP00000507624.1:p.Ile562LeufsTer20
ENST00000683367.1:c.1684del	ENSP00000507780.1:p.Ile562LeufsTer20
ENST00000683489.1:c.1693del	ENSP00000508403.1:p.Ile565LeufsTer20
ENST00000683680.1:c.1693del	ENSP00000507223.1:p.Ile565LeufsTer20
ENST00000684163.1:c.1684del	ENSP00000508262.1:p.Ile562LeufsTer20
ENST00000684196.1:n.4050del
ENST00000684325.1:c.1693del	ENSP00000508121.1:p.Ile565LeufsTer20
ENST00000684385.1:c.1693del	ENSP00000507855.1:p.Ile565LeufsTer20
ENST00000684497.1:c.1693del	ENSP00000507057.1:p.Ile565LeufsTer20
ENST00000382292.9:c.1693del MANE Select	ENSP00000371729.3:p.Ile565LeufsTer20
ENST00000423156.2:c.1693del	ENSP00000390925.2:p.Ile565LeufsTer20
ENST00000455470.6:c.1693del	ENSP00000406565.2:p.Ile565LeufsTer20
ENST00000382292.7:c.1693del	ENSP00000371729.3:p.Ile565LeufsTer20
ENST00000382298.7:c.1693del	ENSP00000371735.3:p.Ile565LeufsTer20
ENST00000402364.1:c.-558del	ENSP00000385844.1:n.-558del
ENST00000423156.1:c.565del	ENSP00000390925.1:p.Ile189LeufsTer20
ENST00000455470.5:c.1391del
NM_001278055.1:c.1252del	NP_001264984.1:p.Ile418LeufsTer20
NM_014363.5:c.1693del	NP_055178.3:p.Ile565LeufsTer20
XM_005266338.1:c.1693del	XP_005266395.1:p.Ile565LeufsTer20
XM_011535038.1:c.1717del	XP_011533340.1:p.Ile573LeufsTer20
XM_011535039.1:c.1684del	XP_011533341.1:p.Ile562LeufsTer20
XM_005266338.2:c.1693del	XP_005266395.1:p.Ile565LeufsTer20
XM_011535039.2:c.1684del	XP_011533341.1:p.Ile562LeufsTer20
XM_017020539.1:c.1684del	XP_016876028.1:p.Ile562LeufsTer20
XM_024449337.1:c.1693del	XP_024305105.1:p.Ile565LeufsTer20
NM_014363.6:c.1693del MANE Select	NP_055178.3:p.Ile565LeufsTer20
NM_001278055.2:c.1252del	NP_001264984.1:p.Ile418LeufsTer20