Canonical Allele Identifier: CA2078629678

Gene: SACS

Linked Data

• dbSNP Id: rs1883465558

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331381dup , CM000675.2:g.23331381dup	GRCh38
NC_000013.10:g.23905520dup , CM000675.1:g.23905520dup	GRCh37
NC_000013.9:g.22803520dup	NCBI36
NG_012342.1:g.107323dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19265dup	ENSP00000508399.1:n.2186-19265dup
ENST00000682944.1:c.12523dup	ENSP00000507173.1:p.Tyr4175LeufsTer22
ENST00000683210.1:c.2185+22405dup	ENSP00000506739.1:n.2185+22405dup
ENST00000683270.1:c.6446-1896dup	ENSP00000507624.1:n.6446-1896dup
ENST00000683367.1:c.2177-1896dup	ENSP00000507780.1:n.2177-1896dup
ENST00000683489.1:c.2292-1428dup	ENSP00000508403.1:n.2292-1428dup
ENST00000683680.1:c.2319-1428dup	ENSP00000507223.1:n.2319-1428dup
ENST00000684163.1:c.2204-1896dup	ENSP00000508262.1:n.2204-1896dup
ENST00000684196.1:n.4543-1896dup
ENST00000684325.1:c.2186-9706dup	ENSP00000508121.1:n.2186-9706dup
ENST00000684385.1:c.2221-1896dup	ENSP00000507855.1:n.2221-1896dup
ENST00000684497.1:c.2186-8736dup	ENSP00000507057.1:n.2186-8736dup
ENST00000382292.9:c.12496dup MANE Select	ENSP00000371729.3:p.Tyr4166LeufsTer22
ENST00000423156.2:c.2186-1896dup	ENSP00000390925.2:n.2186-1896dup
ENST00000455470.6:c.2432-1896dup	ENSP00000406565.2:n.2432-1896dup
ENST00000382292.7:c.12496dup	ENSP00000371729.3:p.Tyr4166LeufsTer22
ENST00000382298.7:c.12496dup	ENSP00000371735.3:p.Tyr4166LeufsTer22
ENST00000402364.1:c.10246dup	ENSP00000385844.1:p.Tyr3416LeufsTer22
ENST00000423156.1:c.1058-1896dup	ENSP00000390925.1:n.1058-1896dup
ENST00000455470.5:c.2130-1896dup
NM_001278055.1:c.12055dup	NP_001264984.1:p.Tyr4019LeufsTer22
NM_014363.5:c.12496dup	NP_055178.3:p.Tyr4166LeufsTer22
XM_005266338.1:c.12523dup	XP_005266395.1:p.Tyr4175LeufsTer22
XM_011535038.1:c.12547dup	XP_011533340.1:p.Tyr4183LeufsTer22
XM_011535039.1:c.12514dup	XP_011533341.1:p.Tyr4172LeufsTer22
XM_005266338.2:c.12523dup	XP_005266395.1:p.Tyr4175LeufsTer22
XM_011535039.2:c.12514dup	XP_011533341.1:p.Tyr4172LeufsTer22
XM_017020539.1:c.12487dup	XP_016876028.1:p.Tyr4163LeufsTer22
XM_024449337.1:c.12523dup	XP_024305105.1:p.Tyr4175LeufsTer22
NM_014363.6:c.12496dup MANE Select	NP_055178.3:p.Tyr4166LeufsTer22
NM_001278055.2:c.12055dup	NP_001264984.1:p.Tyr4019LeufsTer22