Canonical Allele Identifier: CA2575369458

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334257_23334258del , CM000675.2:g.23334257_23334258del	GRCh38
NC_000013.10:g.23908396_23908397del , CM000675.1:g.23908396_23908397del	GRCh37
NC_000013.9:g.22806396_22806397del	NCBI36
NG_012342.1:g.104447_104448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19529_2185+19530del	ENSP00000508399.1:n.2185+19529_2185+19530del
ENST00000682944.1:c.9647_9648del	ENSP00000507173.1:p.Lys3216SerfsTer3
ENST00000683210.1:c.2185+19529_2185+19530del	ENSP00000506739.1:n.2185+19529_2185+19530del
ENST00000683270.1:c.6445+3166_6445+3167del	ENSP00000507624.1:n.6445+3166_6445+3167del
ENST00000683367.1:c.2177-4772_2177-4771del	ENSP00000507780.1:n.2177-4772_2177-4771del
ENST00000683489.1:c.2292-4304_2292-4303del	ENSP00000508403.1:n.2292-4304_2292-4303del
ENST00000683680.1:c.2319-4304_2319-4303del	ENSP00000507223.1:n.2319-4304_2319-4303del
ENST00000684163.1:c.2204-4772_2204-4771del	ENSP00000508262.1:n.2204-4772_2204-4771del
ENST00000684196.1:n.4543-4772_4543-4771del
ENST00000684325.1:c.2186-12582_2186-12581del	ENSP00000508121.1:n.2186-12582_2186-12581del
ENST00000684385.1:c.2221-4772_2221-4771del	ENSP00000507855.1:n.2221-4772_2221-4771del
ENST00000684497.1:c.2186-11612_2186-11611del	ENSP00000507057.1:n.2186-11612_2186-11611del
ENST00000382292.9:c.9620_9621del MANE Select	ENSP00000371729.3:p.Lys3207SerfsTer3
ENST00000423156.2:c.2186-4772_2186-4771del	ENSP00000390925.2:n.2186-4772_2186-4771del
ENST00000455470.6:c.2432-4772_2432-4771del	ENSP00000406565.2:n.2432-4772_2432-4771del
ENST00000382292.7:c.9620_9621del	ENSP00000371729.3:p.Lys3207SerfsTer3
ENST00000382298.7:c.9620_9621del	ENSP00000371735.3:p.Lys3207SerfsTer3
ENST00000402364.1:c.7370_7371del	ENSP00000385844.1:p.Lys2457SerfsTer3
ENST00000423156.1:c.1058-4772_1058-4771del	ENSP00000390925.1:n.1058-4772_1058-4771del
ENST00000455470.5:c.2130-4772_2130-4771del
NM_001278055.1:c.9179_9180del	NP_001264984.1:p.Lys3060SerfsTer3
NM_014363.5:c.9620_9621del	NP_055178.3:p.Lys3207SerfsTer3
XM_005266338.1:c.9647_9648del	XP_005266395.1:p.Lys3216SerfsTer3
XM_011535038.1:c.9671_9672del	XP_011533340.1:p.Lys3224SerfsTer3
XM_011535039.1:c.9638_9639del	XP_011533341.1:p.Lys3213SerfsTer3
XM_005266338.2:c.9647_9648del	XP_005266395.1:p.Lys3216SerfsTer3
XM_011535039.2:c.9638_9639del	XP_011533341.1:p.Lys3213SerfsTer3
XM_017020539.1:c.9611_9612del	XP_016876028.1:p.Lys3204SerfsTer3
XM_024449337.1:c.9647_9648del	XP_024305105.1:p.Lys3216SerfsTer3
NM_014363.6:c.9620_9621del MANE Select	NP_055178.3:p.Lys3207SerfsTer3
NM_001278055.2:c.9179_9180del	NP_001264984.1:p.Lys3060SerfsTer3