Canonical Allele Identifier: CA2831039783

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336555_23336559del , CM000675.2:g.23336555_23336559del	GRCh38
NC_000013.10:g.23910694_23910698del , CM000675.1:g.23910694_23910698del	GRCh37
NC_000013.9:g.22808694_22808698del	NCBI36
NG_012342.1:g.102144_102148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17226_2185+17230del	ENSP00000508399.1:n.2185+17226_2185+17230del
ENST00000682944.1:c.7344_7348del	ENSP00000507173.1:p.Lys2449ArgfsTer4
ENST00000683210.1:c.2185+17226_2185+17230del	ENSP00000506739.1:n.2185+17226_2185+17230del
ENST00000683270.1:c.6445+863_6445+867del	ENSP00000507624.1:n.6445+863_6445+867del
ENST00000683367.1:c.2177-7075_2177-7071del	ENSP00000507780.1:n.2177-7075_2177-7071del
ENST00000683489.1:c.2291+5026_2291+5030del	ENSP00000508403.1:n.2291+5026_2291+5030del
ENST00000683680.1:c.2318+5026_2318+5030del	ENSP00000507223.1:n.2318+5026_2318+5030del
ENST00000684163.1:c.2204-7075_2204-7071del	ENSP00000508262.1:n.2204-7075_2204-7071del
ENST00000684196.1:n.4543-7075_4543-7071del
ENST00000684325.1:c.2186-14885_2186-14881del	ENSP00000508121.1:n.2186-14885_2186-14881del
ENST00000684385.1:c.2221-7075_2221-7071del	ENSP00000507855.1:n.2221-7075_2221-7071del
ENST00000684497.1:c.2186-13915_2186-13911del	ENSP00000507057.1:n.2186-13915_2186-13911del
ENST00000382292.9:c.7317_7321del MANE Select	ENSP00000371729.3:p.Lys2440ArgfsTer4
ENST00000423156.2:c.2186-7075_2186-7071del	ENSP00000390925.2:n.2186-7075_2186-7071del
ENST00000455470.6:c.2431+4886_2431+4890del	ENSP00000406565.2:n.2431+4886_2431+4890del
ENST00000382292.7:c.7317_7321del	ENSP00000371729.3:p.Lys2440ArgfsTer4
ENST00000382298.7:c.7317_7321del	ENSP00000371735.3:p.Lys2440ArgfsTer4
ENST00000402364.1:c.5067_5071del	ENSP00000385844.1:p.Lys1690ArgfsTer4
ENST00000423156.1:c.1058-7075_1058-7071del	ENSP00000390925.1:n.1058-7075_1058-7071del
ENST00000455470.5:c.2129+4886_2129+4890del
NM_001278055.1:c.6876_6880del	NP_001264984.1:p.Lys2293ArgfsTer4
NM_014363.5:c.7317_7321del	NP_055178.3:p.Lys2440ArgfsTer4
XM_005266338.1:c.7344_7348del	XP_005266395.1:p.Lys2449ArgfsTer4
XM_011535038.1:c.7368_7372del	XP_011533340.1:p.Lys2457ArgfsTer4
XM_011535039.1:c.7335_7339del	XP_011533341.1:p.Lys2446ArgfsTer4
XM_005266338.2:c.7344_7348del	XP_005266395.1:p.Lys2449ArgfsTer4
XM_011535039.2:c.7335_7339del	XP_011533341.1:p.Lys2446ArgfsTer4
XM_017020539.1:c.7308_7312del	XP_016876028.1:p.Lys2437ArgfsTer4
XM_024449337.1:c.7344_7348del	XP_024305105.1:p.Lys2449ArgfsTer4
NM_014363.6:c.7317_7321del MANE Select	NP_055178.3:p.Lys2440ArgfsTer4
NM_001278055.2:c.6876_6880del	NP_001264984.1:p.Lys2293ArgfsTer4