Canonical Allele Identifier: CA2580086838

Gene: SACS

Linked Data

• ClinVar Variation Id: 1705930
• ClinVar RCV Id: RCV002284304

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333430_23333433del , CM000675.2:g.23333430_23333433del	GRCh38
NC_000013.10:g.23907569_23907572del , CM000675.1:g.23907569_23907572del	GRCh37
NC_000013.9:g.22805569_22805572del	NCBI36
NG_012342.1:g.105271_105274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20353_2185+20356del	ENSP00000508399.1:n.2185+20353_2185+20356del
ENST00000682944.1:c.10471_10474del	ENSP00000507173.1:p.Leu3491GlnfsTer12
ENST00000683210.1:c.2185+20353_2185+20356del	ENSP00000506739.1:n.2185+20353_2185+20356del
ENST00000683270.1:c.6446-3948_6446-3945del	ENSP00000507624.1:n.6446-3948_6446-3945del
ENST00000683367.1:c.2177-3948_2177-3945del	ENSP00000507780.1:n.2177-3948_2177-3945del
ENST00000683489.1:c.2292-3480_2292-3477del	ENSP00000508403.1:n.2292-3480_2292-3477del
ENST00000683680.1:c.2319-3480_2319-3477del	ENSP00000507223.1:n.2319-3480_2319-3477del
ENST00000684163.1:c.2204-3948_2204-3945del	ENSP00000508262.1:n.2204-3948_2204-3945del
ENST00000684196.1:n.4543-3948_4543-3945del
ENST00000684325.1:c.2186-11758_2186-11755del	ENSP00000508121.1:n.2186-11758_2186-11755del
ENST00000684385.1:c.2221-3948_2221-3945del	ENSP00000507855.1:n.2221-3948_2221-3945del
ENST00000684497.1:c.2186-10788_2186-10785del	ENSP00000507057.1:n.2186-10788_2186-10785del
ENST00000382292.9:c.10444_10447del MANE Select	ENSP00000371729.3:p.Leu3482GlnfsTer12
ENST00000423156.2:c.2186-3948_2186-3945del	ENSP00000390925.2:n.2186-3948_2186-3945del
ENST00000455470.6:c.2432-3948_2432-3945del	ENSP00000406565.2:n.2432-3948_2432-3945del
ENST00000382292.7:c.10444_10447del	ENSP00000371729.3:p.Leu3482GlnfsTer12
ENST00000382298.7:c.10444_10447del	ENSP00000371735.3:p.Leu3482GlnfsTer12
ENST00000402364.1:c.8194_8197del	ENSP00000385844.1:p.Leu2732GlnfsTer12
ENST00000423156.1:c.1058-3948_1058-3945del	ENSP00000390925.1:n.1058-3948_1058-3945del
ENST00000455470.5:c.2130-3948_2130-3945del
NM_001278055.1:c.10003_10006del	NP_001264984.1:p.Leu3335GlnfsTer12
NM_014363.5:c.10444_10447del	NP_055178.3:p.Leu3482GlnfsTer12
XM_005266338.1:c.10471_10474del	XP_005266395.1:p.Leu3491GlnfsTer12
XM_011535038.1:c.10495_10498del	XP_011533340.1:p.Leu3499GlnfsTer12
XM_011535039.1:c.10462_10465del	XP_011533341.1:p.Leu3488GlnfsTer12
XM_005266338.2:c.10471_10474del	XP_005266395.1:p.Leu3491GlnfsTer12
XM_011535039.2:c.10462_10465del	XP_011533341.1:p.Leu3488GlnfsTer12
XM_017020539.1:c.10435_10438del	XP_016876028.1:p.Leu3479GlnfsTer12
XM_024449337.1:c.10471_10474del	XP_024305105.1:p.Leu3491GlnfsTer12
NM_014363.6:c.10444_10447del MANE Select	NP_055178.3:p.Leu3482GlnfsTer12
NM_001278055.2:c.10003_10006del	NP_001264984.1:p.Leu3335GlnfsTer12