Canonical Allele Identifier: CA2580086856

Gene: SACS

Linked Data

• ClinVar Variation Id: 1724284
• ClinVar RCV Id: RCV002309552

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23354895_23354896del , CM000675.2:g.23354895_23354896del	GRCh38
NC_000013.10:g.23929034_23929035del , CM000675.1:g.23929034_23929035del	GRCh37
NC_000013.9:g.22827034_22827035del	NCBI36
NG_012342.1:g.83807_83808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.1716_1717del	ENSP00000508399.1:p.Glu573AlafsTer8
ENST00000682944.1:c.1716_1717del	ENSP00000507173.1:p.Glu573AlafsTer8
ENST00000683154.1:n.1854_1855del
ENST00000683210.1:c.1716_1717del	ENSP00000506739.1:p.Glu573AlafsTer8
ENST00000683270.1:c.1707_1708del	ENSP00000507624.1:p.Glu570AlafsTer8
ENST00000683367.1:c.1707_1708del	ENSP00000507780.1:p.Glu570AlafsTer8
ENST00000683489.1:c.1716_1717del	ENSP00000508403.1:p.Glu573AlafsTer8
ENST00000683680.1:c.1716_1717del	ENSP00000507223.1:p.Glu573AlafsTer8
ENST00000684163.1:c.1707_1708del	ENSP00000508262.1:p.Glu570AlafsTer8
ENST00000684196.1:n.4073_4074del
ENST00000684325.1:c.1716_1717del	ENSP00000508121.1:p.Glu573AlafsTer8
ENST00000684385.1:c.1716_1717del	ENSP00000507855.1:p.Glu573AlafsTer8
ENST00000684497.1:c.1716_1717del	ENSP00000507057.1:p.Glu573AlafsTer8
ENST00000382292.9:c.1716_1717del MANE Select	ENSP00000371729.3:p.Glu573AlafsTer8
ENST00000423156.2:c.1716_1717del	ENSP00000390925.2:p.Glu573AlafsTer8
ENST00000455470.6:c.1716_1717del	ENSP00000406565.2:p.Glu573AlafsTer8
ENST00000382292.7:c.1716_1717del	ENSP00000371729.3:p.Glu573AlafsTer8
ENST00000382298.7:c.1716_1717del	ENSP00000371735.3:p.Glu573AlafsTer8
ENST00000402364.1:c.-535_-534del	ENSP00000385844.1:n.-535_-534del
ENST00000423156.1:c.588_589del	ENSP00000390925.1:p.Glu197AlafsTer8
ENST00000455470.5:c.1414_1415del
NM_001278055.1:c.1275_1276del	NP_001264984.1:p.Glu426AlafsTer8
NM_014363.5:c.1716_1717del	NP_055178.3:p.Glu573AlafsTer8
XM_005266338.1:c.1716_1717del	XP_005266395.1:p.Glu573AlafsTer8
XM_011535038.1:c.1740_1741del	XP_011533340.1:p.Glu581AlafsTer8
XM_011535039.1:c.1707_1708del	XP_011533341.1:p.Glu570AlafsTer8
XM_005266338.2:c.1716_1717del	XP_005266395.1:p.Glu573AlafsTer8
XM_011535039.2:c.1707_1708del	XP_011533341.1:p.Glu570AlafsTer8
XM_017020539.1:c.1707_1708del	XP_016876028.1:p.Glu570AlafsTer8
XM_024449337.1:c.1716_1717del	XP_024305105.1:p.Glu573AlafsTer8
NM_014363.6:c.1716_1717del MANE Select	NP_055178.3:p.Glu573AlafsTer8
NM_001278055.2:c.1275_1276del	NP_001264984.1:p.Glu426AlafsTer8