Canonical Allele Identifier: CA2798487832

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333711_23333713del , CM000675.2:g.23333711_23333713del	GRCh38
NC_000013.10:g.23907850_23907852del , CM000675.1:g.23907850_23907852del	GRCh37
NC_000013.9:g.22805850_22805852del	NCBI36
NG_012342.1:g.104992_104994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20074_2185+20076del	ENSP00000508399.1:n.2185+20074_2185+20076del
ENST00000682944.1:c.10192_10194del	ENSP00000507173.1:p.Met3398del
ENST00000683210.1:c.2185+20074_2185+20076del	ENSP00000506739.1:n.2185+20074_2185+20076del
ENST00000683270.1:c.6445+3711_6445+3713del	ENSP00000507624.1:n.6445+3711_6445+3713del
ENST00000683367.1:c.2177-4227_2177-4225del	ENSP00000507780.1:n.2177-4227_2177-4225del
ENST00000683489.1:c.2292-3759_2292-3757del	ENSP00000508403.1:n.2292-3759_2292-3757del
ENST00000683680.1:c.2319-3759_2319-3757del	ENSP00000507223.1:n.2319-3759_2319-3757del
ENST00000684163.1:c.2204-4227_2204-4225del	ENSP00000508262.1:n.2204-4227_2204-4225del
ENST00000684196.1:n.4543-4227_4543-4225del
ENST00000684325.1:c.2186-12037_2186-12035del	ENSP00000508121.1:n.2186-12037_2186-12035del
ENST00000684385.1:c.2221-4227_2221-4225del	ENSP00000507855.1:n.2221-4227_2221-4225del
ENST00000684497.1:c.2186-11067_2186-11065del	ENSP00000507057.1:n.2186-11067_2186-11065del
ENST00000382292.9:c.10165_10167del MANE Select	ENSP00000371729.3:p.Met3389del
ENST00000423156.2:c.2186-4227_2186-4225del	ENSP00000390925.2:n.2186-4227_2186-4225del
ENST00000455470.6:c.2432-4227_2432-4225del	ENSP00000406565.2:n.2432-4227_2432-4225del
ENST00000382292.7:c.10165_10167del	ENSP00000371729.3:p.Met3389del
ENST00000382298.7:c.10165_10167del	ENSP00000371735.3:p.Met3389del
ENST00000402364.1:c.7915_7917del	ENSP00000385844.1:p.Met2639del
ENST00000423156.1:c.1058-4227_1058-4225del	ENSP00000390925.1:n.1058-4227_1058-4225del
ENST00000455470.5:c.2130-4227_2130-4225del
NM_001278055.1:c.9724_9726del	NP_001264984.1:p.Met3242del
NM_014363.5:c.10165_10167del	NP_055178.3:p.Met3389del
XM_005266338.1:c.10192_10194del	XP_005266395.1:p.Met3398del
XM_011535038.1:c.10216_10218del	XP_011533340.1:p.Met3406del
XM_011535039.1:c.10183_10185del	XP_011533341.1:p.Met3395del
XM_005266338.2:c.10192_10194del	XP_005266395.1:p.Met3398del
XM_011535039.2:c.10183_10185del	XP_011533341.1:p.Met3395del
XM_017020539.1:c.10156_10158del	XP_016876028.1:p.Met3386del
XM_024449337.1:c.10192_10194del	XP_024305105.1:p.Met3398del
NM_014363.6:c.10165_10167del MANE Select	NP_055178.3:p.Met3389del
NM_001278055.2:c.9724_9726del	NP_001264984.1:p.Met3242del