Canonical Allele Identifier: CA2798487828

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333372del , CM000675.2:g.23333372del	GRCh38
NC_000013.10:g.23907511del , CM000675.1:g.23907511del	GRCh37
NC_000013.9:g.22805511del	NCBI36
NG_012342.1:g.105332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20414del	ENSP00000508399.1:n.2185+20414del
ENST00000682944.1:c.10532del	ENSP00000507173.1:p.Asn3511IlefsTer24
ENST00000683210.1:c.2185+20414del	ENSP00000506739.1:n.2185+20414del
ENST00000683270.1:c.6446-3887del	ENSP00000507624.1:n.6446-3887del
ENST00000683367.1:c.2177-3887del	ENSP00000507780.1:n.2177-3887del
ENST00000683489.1:c.2292-3419del	ENSP00000508403.1:n.2292-3419del
ENST00000683680.1:c.2319-3419del	ENSP00000507223.1:n.2319-3419del
ENST00000684163.1:c.2204-3887del	ENSP00000508262.1:n.2204-3887del
ENST00000684196.1:n.4543-3887del
ENST00000684325.1:c.2186-11697del	ENSP00000508121.1:n.2186-11697del
ENST00000684385.1:c.2221-3887del	ENSP00000507855.1:n.2221-3887del
ENST00000684497.1:c.2186-10727del	ENSP00000507057.1:n.2186-10727del
ENST00000382292.9:c.10505del MANE Select	ENSP00000371729.3:p.Asn3502IlefsTer24
ENST00000423156.2:c.2186-3887del	ENSP00000390925.2:n.2186-3887del
ENST00000455470.6:c.2432-3887del	ENSP00000406565.2:n.2432-3887del
ENST00000382292.7:c.10505del	ENSP00000371729.3:p.Asn3502IlefsTer24
ENST00000382298.7:c.10505del	ENSP00000371735.3:p.Asn3502IlefsTer24
ENST00000402364.1:c.8255del	ENSP00000385844.1:p.Asn2752IlefsTer24
ENST00000423156.1:c.1058-3887del	ENSP00000390925.1:n.1058-3887del
ENST00000455470.5:c.2130-3887del
NM_001278055.1:c.10064del	NP_001264984.1:p.Asn3355IlefsTer24
NM_014363.5:c.10505del	NP_055178.3:p.Asn3502IlefsTer24
XM_005266338.1:c.10532del	XP_005266395.1:p.Asn3511IlefsTer24
XM_011535038.1:c.10556del	XP_011533340.1:p.Asn3519IlefsTer24
XM_011535039.1:c.10523del	XP_011533341.1:p.Asn3508IlefsTer24
XM_005266338.2:c.10532del	XP_005266395.1:p.Asn3511IlefsTer24
XM_011535039.2:c.10523del	XP_011533341.1:p.Asn3508IlefsTer24
XM_017020539.1:c.10496del	XP_016876028.1:p.Asn3499IlefsTer24
XM_024449337.1:c.10532del	XP_024305105.1:p.Asn3511IlefsTer24
NM_014363.6:c.10505del MANE Select	NP_055178.3:p.Asn3502IlefsTer24
NM_001278055.2:c.10064del	NP_001264984.1:p.Asn3355IlefsTer24