Canonical Allele Identifier: CA912980189

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23907631_23907636del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333492_23333497del , CM000675.2:g.23333492_23333497del	GRCh38
NC_000013.10:g.23907631_23907636del , CM000675.1:g.23907631_23907636del	GRCh37
NC_000013.9:g.22805631_22805636del	NCBI36
NG_012342.1:g.105206_105211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20288_2185+20293del	ENSP00000508399.1:n.2185+20288_2185+20293del
ENST00000682944.1:c.10406_10411del	ENSP00000507173.1:p.Lys3469_Leu3471delinsIle
ENST00000683210.1:c.2185+20288_2185+20293del	ENSP00000506739.1:n.2185+20288_2185+20293del
ENST00000683270.1:c.6445+3925_6445+3930del	ENSP00000507624.1:n.6445+3925_6445+3930del
ENST00000683367.1:c.2177-4013_2177-4008del	ENSP00000507780.1:n.2177-4013_2177-4008del
ENST00000683489.1:c.2292-3545_2292-3540del	ENSP00000508403.1:n.2292-3545_2292-3540del
ENST00000683680.1:c.2319-3545_2319-3540del	ENSP00000507223.1:n.2319-3545_2319-3540del
ENST00000684163.1:c.2204-4013_2204-4008del	ENSP00000508262.1:n.2204-4013_2204-4008del
ENST00000684196.1:n.4543-4013_4543-4008del
ENST00000684325.1:c.2186-11823_2186-11818del	ENSP00000508121.1:n.2186-11823_2186-11818del
ENST00000684385.1:c.2221-4013_2221-4008del	ENSP00000507855.1:n.2221-4013_2221-4008del
ENST00000684497.1:c.2186-10853_2186-10848del	ENSP00000507057.1:n.2186-10853_2186-10848del
ENST00000382292.9:c.10379_10384del MANE Select	ENSP00000371729.3:p.Lys3460_Leu3462delinsIle
ENST00000423156.2:c.2186-4013_2186-4008del	ENSP00000390925.2:n.2186-4013_2186-4008del
ENST00000455470.6:c.2432-4013_2432-4008del	ENSP00000406565.2:n.2432-4013_2432-4008del
ENST00000382292.7:c.10379_10384del	ENSP00000371729.3:p.Lys3460_Leu3462delinsIle
ENST00000382298.7:c.10379_10384del	ENSP00000371735.3:p.Lys3460_Leu3462delinsIle
ENST00000402364.1:c.8129_8134del	ENSP00000385844.1:p.Lys2710_Leu2712delinsIle
ENST00000423156.1:c.1058-4013_1058-4008del	ENSP00000390925.1:n.1058-4013_1058-4008del
ENST00000455470.5:c.2130-4013_2130-4008del
NM_001278055.1:c.9938_9943del	NP_001264984.1:p.Lys3313_Leu3315delinsIle
NM_014363.5:c.10379_10384del	NP_055178.3:p.Lys3460_Leu3462delinsIle
XM_005266338.1:c.10406_10411del	XP_005266395.1:p.Lys3469_Leu3471delinsIle
XM_011535038.1:c.10430_10435del	XP_011533340.1:p.Lys3477_Leu3479delinsIle
XM_011535039.1:c.10397_10402del	XP_011533341.1:p.Lys3466_Leu3468delinsIle
XM_005266338.2:c.10406_10411del	XP_005266395.1:p.Lys3469_Leu3471delinsIle
XM_011535039.2:c.10397_10402del	XP_011533341.1:p.Lys3466_Leu3468delinsIle
XM_017020539.1:c.10370_10375del	XP_016876028.1:p.Lys3457_Leu3459delinsIle
XM_024449337.1:c.10406_10411del	XP_024305105.1:p.Lys3469_Leu3471delinsIle
NM_014363.6:c.10379_10384del MANE Select	NP_055178.3:p.Lys3460_Leu3462delinsIle
NM_001278055.2:c.9938_9943del	NP_001264984.1:p.Lys3313_Leu3315delinsIle