Canonical Allele Identifier: CA2622328961

Gene: SACS

Linked Data

• gnomAD v4: 13-23333635-TTATAGCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333636_23333643del , CM000675.2:g.23333636_23333643del	GRCh38
NC_000013.10:g.23907775_23907782del , CM000675.1:g.23907775_23907782del	GRCh37
NC_000013.9:g.22805775_22805782del	NCBI36
NG_012342.1:g.105060_105067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20142_2185+20149del	ENSP00000508399.1:n.2185+20142_2185+20149del
ENST00000682944.1:c.10260_10267del	ENSP00000507173.1:p.Cys3421IlefsTer26
ENST00000683210.1:c.2185+20142_2185+20149del	ENSP00000506739.1:n.2185+20142_2185+20149del
ENST00000683270.1:c.6445+3779_6445+3786del	ENSP00000507624.1:n.6445+3779_6445+3786del
ENST00000683367.1:c.2177-4159_2177-4152del	ENSP00000507780.1:n.2177-4159_2177-4152del
ENST00000683489.1:c.2292-3691_2292-3684del	ENSP00000508403.1:n.2292-3691_2292-3684del
ENST00000683680.1:c.2319-3691_2319-3684del	ENSP00000507223.1:n.2319-3691_2319-3684del
ENST00000684163.1:c.2204-4159_2204-4152del	ENSP00000508262.1:n.2204-4159_2204-4152del
ENST00000684196.1:n.4543-4159_4543-4152del
ENST00000684325.1:c.2186-11969_2186-11962del	ENSP00000508121.1:n.2186-11969_2186-11962del
ENST00000684385.1:c.2221-4159_2221-4152del	ENSP00000507855.1:n.2221-4159_2221-4152del
ENST00000684497.1:c.2186-10999_2186-10992del	ENSP00000507057.1:n.2186-10999_2186-10992del
ENST00000382292.9:c.10233_10240del MANE Select	ENSP00000371729.3:p.Cys3412IlefsTer26
ENST00000423156.2:c.2186-4159_2186-4152del	ENSP00000390925.2:n.2186-4159_2186-4152del
ENST00000455470.6:c.2432-4159_2432-4152del	ENSP00000406565.2:n.2432-4159_2432-4152del
ENST00000382292.7:c.10233_10240del	ENSP00000371729.3:p.Cys3412IlefsTer26
ENST00000382298.7:c.10233_10240del	ENSP00000371735.3:p.Cys3412IlefsTer26
ENST00000402364.1:c.7983_7990del	ENSP00000385844.1:p.Cys2662IlefsTer26
ENST00000423156.1:c.1058-4159_1058-4152del	ENSP00000390925.1:n.1058-4159_1058-4152del
ENST00000455470.5:c.2130-4159_2130-4152del
NM_001278055.1:c.9792_9799del	NP_001264984.1:p.Cys3265IlefsTer26
NM_014363.5:c.10233_10240del	NP_055178.3:p.Cys3412IlefsTer26
XM_005266338.1:c.10260_10267del	XP_005266395.1:p.Cys3421IlefsTer26
XM_011535038.1:c.10284_10291del	XP_011533340.1:p.Cys3429IlefsTer26
XM_011535039.1:c.10251_10258del	XP_011533341.1:p.Cys3418IlefsTer26
XM_005266338.2:c.10260_10267del	XP_005266395.1:p.Cys3421IlefsTer26
XM_011535039.2:c.10251_10258del	XP_011533341.1:p.Cys3418IlefsTer26
XM_017020539.1:c.10224_10231del	XP_016876028.1:p.Cys3409IlefsTer26
XM_024449337.1:c.10260_10267del	XP_024305105.1:p.Cys3421IlefsTer26
NM_014363.6:c.10233_10240del MANE Select	NP_055178.3:p.Cys3412IlefsTer26
NM_001278055.2:c.9792_9799del	NP_001264984.1:p.Cys3265IlefsTer26