Canonical Allele Identifier: CA2798500441

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330931_23330934del , CM000675.2:g.23330931_23330934del	GRCh38
NC_000013.10:g.23905070_23905073del , CM000675.1:g.23905070_23905073del	GRCh37
NC_000013.9:g.22803070_22803073del	NCBI36
NG_012342.1:g.107769_107772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18819_2186-18816del	ENSP00000508399.1:n.2186-18819_2186-18816del
ENST00000682944.1:c.12969_12972del	ENSP00000507173.1:p.Glu4324LysfsTer19
ENST00000683210.1:c.2185+22851_2185+22854del	ENSP00000506739.1:n.2185+22851_2185+22854del
ENST00000683270.1:c.6446-1450_6446-1447del	ENSP00000507624.1:n.6446-1450_6446-1447del
ENST00000683367.1:c.2177-1450_2177-1447del	ENSP00000507780.1:n.2177-1450_2177-1447del
ENST00000683489.1:c.2292-982_2292-979del	ENSP00000508403.1:n.2292-982_2292-979del
ENST00000683680.1:c.2319-982_2319-979del	ENSP00000507223.1:n.2319-982_2319-979del
ENST00000684163.1:c.2204-1450_2204-1447del	ENSP00000508262.1:n.2204-1450_2204-1447del
ENST00000684196.1:n.4543-1450_4543-1447del
ENST00000684325.1:c.2186-9260_2186-9257del	ENSP00000508121.1:n.2186-9260_2186-9257del
ENST00000684385.1:c.2221-1450_2221-1447del	ENSP00000507855.1:n.2221-1450_2221-1447del
ENST00000684497.1:c.2186-8290_2186-8287del	ENSP00000507057.1:n.2186-8290_2186-8287del
ENST00000382292.9:c.12942_12945del MANE Select	ENSP00000371729.3:p.Glu4315LysfsTer19
ENST00000423156.2:c.2186-1450_2186-1447del	ENSP00000390925.2:n.2186-1450_2186-1447del
ENST00000455470.6:c.2432-1450_2432-1447del	ENSP00000406565.2:n.2432-1450_2432-1447del
ENST00000382292.7:c.12942_12945del	ENSP00000371729.3:p.Glu4315LysfsTer19
ENST00000382298.7:c.12942_12945del	ENSP00000371735.3:p.Glu4315LysfsTer19
ENST00000402364.1:c.10692_10695del	ENSP00000385844.1:p.Glu3565LysfsTer19
ENST00000423156.1:c.1058-1450_1058-1447del	ENSP00000390925.1:n.1058-1450_1058-1447del
ENST00000455470.5:c.2130-1450_2130-1447del
NM_001278055.1:c.12501_12504del	NP_001264984.1:p.Glu4168LysfsTer19
NM_014363.5:c.12942_12945del	NP_055178.3:p.Glu4315LysfsTer19
XM_005266338.1:c.12969_12972del	XP_005266395.1:p.Glu4324LysfsTer19
XM_011535038.1:c.12993_12996del	XP_011533340.1:p.Glu4332LysfsTer19
XM_011535039.1:c.12960_12963del	XP_011533341.1:p.Glu4321LysfsTer19
XM_005266338.2:c.12969_12972del	XP_005266395.1:p.Glu4324LysfsTer19
XM_011535039.2:c.12960_12963del	XP_011533341.1:p.Glu4321LysfsTer19
XM_017020539.1:c.12933_12936del	XP_016876028.1:p.Glu4312LysfsTer19
XM_024449337.1:c.12969_12972del	XP_024305105.1:p.Glu4324LysfsTer19
NM_014363.6:c.12942_12945del MANE Select	NP_055178.3:p.Glu4315LysfsTer19
NM_001278055.2:c.12501_12504del	NP_001264984.1:p.Glu4168LysfsTer19