Canonical Allele Identifier: CA2525111726

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336373del , CM000675.2:g.23336373del	GRCh38
NC_000013.10:g.23910512del , CM000675.1:g.23910512del	GRCh37
NC_000013.9:g.22808512del	NCBI36
NG_012342.1:g.102330del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+17412del	ENSP00000508399.1:n.2185+17412del
ENST00000682944.1:c.7530del	ENSP00000507173.1:p.Lys2510AsnfsTer6
ENST00000683210.1:c.2185+17412del	ENSP00000506739.1:n.2185+17412del
ENST00000683270.1:c.6445+1049del	ENSP00000507624.1:n.6445+1049del
ENST00000683367.1:c.2177-6889del	ENSP00000507780.1:n.2177-6889del
ENST00000683489.1:c.2291+5212del	ENSP00000508403.1:n.2291+5212del
ENST00000683680.1:c.2318+5212del	ENSP00000507223.1:n.2318+5212del
ENST00000684163.1:c.2204-6889del	ENSP00000508262.1:n.2204-6889del
ENST00000684196.1:n.4543-6889del
ENST00000684325.1:c.2186-14699del	ENSP00000508121.1:n.2186-14699del
ENST00000684385.1:c.2221-6889del	ENSP00000507855.1:n.2221-6889del
ENST00000684497.1:c.2186-13729del	ENSP00000507057.1:n.2186-13729del
ENST00000382292.9:c.7503del MANE Select	ENSP00000371729.3:p.Lys2501AsnfsTer6
ENST00000423156.2:c.2186-6889del	ENSP00000390925.2:n.2186-6889del
ENST00000455470.6:c.2431+5072del	ENSP00000406565.2:n.2431+5072del
ENST00000382292.7:c.7503del	ENSP00000371729.3:p.Lys2501AsnfsTer6
ENST00000382298.7:c.7503del	ENSP00000371735.3:p.Lys2501AsnfsTer6
ENST00000402364.1:c.5253del	ENSP00000385844.1:p.Lys1751AsnfsTer6
ENST00000423156.1:c.1058-6889del	ENSP00000390925.1:n.1058-6889del
ENST00000455470.5:c.2129+5072del
NM_001278055.1:c.7062del	NP_001264984.1:p.Lys2354AsnfsTer6
NM_014363.5:c.7503del	NP_055178.3:p.Lys2501AsnfsTer6
XM_005266338.1:c.7530del	XP_005266395.1:p.Lys2510AsnfsTer6
XM_011535038.1:c.7554del	XP_011533340.1:p.Lys2518AsnfsTer6
XM_011535039.1:c.7521del	XP_011533341.1:p.Lys2507AsnfsTer6
XM_005266338.2:c.7530del	XP_005266395.1:p.Lys2510AsnfsTer6
XM_011535039.2:c.7521del	XP_011533341.1:p.Lys2507AsnfsTer6
XM_017020539.1:c.7494del	XP_016876028.1:p.Lys2498AsnfsTer6
XM_024449337.1:c.7530del	XP_024305105.1:p.Lys2510AsnfsTer6
NM_014363.6:c.7503del MANE Select	NP_055178.3:p.Lys2501AsnfsTer6
NM_001278055.2:c.7062del	NP_001264984.1:p.Lys2354AsnfsTer6