Canonical Allele Identifier: CA2078628271

Gene: SACS

Linked Data

• dbSNP Id: rs1868804744

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337929_23337930insAC , CM000675.2:g.23337929_23337930insAC	GRCh38
NC_000013.10:g.23912068_23912069insAC , CM000675.1:g.23912068_23912069insAC	GRCh37
NC_000013.9:g.22810068_22810069insAC	NCBI36
NG_012342.1:g.100773_100774insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15855_2185+15856insGT	ENSP00000508399.1:n.2185+15855_2185+15856insGT
ENST00000682944.1:c.5973_5974insGT	ENSP00000507173.1:p.Ser1992ValfsTer7
ENST00000683210.1:c.2185+15855_2185+15856insGT	ENSP00000506739.1:n.2185+15855_2185+15856insGT
ENST00000683270.1:c.5937_5938insGT	ENSP00000507624.1:p.Ser1980ValfsTer7
ENST00000683367.1:c.2177-8446_2177-8445insGT	ENSP00000507780.1:n.2177-8446_2177-8445insGT
ENST00000683489.1:c.2291+3655_2291+3656insGT	ENSP00000508403.1:n.2291+3655_2291+3656insGT
ENST00000683680.1:c.2318+3655_2318+3656insGT	ENSP00000507223.1:n.2318+3655_2318+3656insGT
ENST00000684163.1:c.2204-8446_2204-8445insGT	ENSP00000508262.1:n.2204-8446_2204-8445insGT
ENST00000684196.1:n.4543-8446_4543-8445insGT
ENST00000684325.1:c.2185+15855_2185+15856insGT	ENSP00000508121.1:n.2185+15855_2185+15856insGT
ENST00000684385.1:c.2221-8446_2221-8445insGT	ENSP00000507855.1:n.2221-8446_2221-8445insGT
ENST00000684497.1:c.2186-15286_2186-15285insGT	ENSP00000507057.1:n.2186-15286_2186-15285insGT
ENST00000382292.9:c.5946_5947insGT MANE Select	ENSP00000371729.3:p.Ser1983ValfsTer7
ENST00000423156.2:c.2186-8446_2186-8445insGT	ENSP00000390925.2:n.2186-8446_2186-8445insGT
ENST00000455470.6:c.2431+3515_2431+3516insGT	ENSP00000406565.2:n.2431+3515_2431+3516insGT
ENST00000382292.7:c.5946_5947insGT	ENSP00000371729.3:p.Ser1983ValfsTer7
ENST00000382298.7:c.5946_5947insGT	ENSP00000371735.3:p.Ser1983ValfsTer7
ENST00000402364.1:c.3696_3697insGT	ENSP00000385844.1:p.Ser1233ValfsTer7
ENST00000423156.1:c.1058-8446_1058-8445insGT	ENSP00000390925.1:n.1058-8446_1058-8445insGT
ENST00000455470.5:c.2129+3515_2129+3516insGT
NM_001278055.1:c.5505_5506insGT	NP_001264984.1:p.Ser1836ValfsTer7
NM_014363.5:c.5946_5947insGT	NP_055178.3:p.Ser1983ValfsTer7
XM_005266338.1:c.5973_5974insGT	XP_005266395.1:p.Ser1992ValfsTer7
XM_011535038.1:c.5997_5998insGT	XP_011533340.1:p.Ser2000ValfsTer7
XM_011535039.1:c.5964_5965insGT	XP_011533341.1:p.Ser1989ValfsTer7
XM_005266338.2:c.5973_5974insGT	XP_005266395.1:p.Ser1992ValfsTer7
XM_011535039.2:c.5964_5965insGT	XP_011533341.1:p.Ser1989ValfsTer7
XM_017020539.1:c.5937_5938insGT	XP_016876028.1:p.Ser1980ValfsTer7
XM_024449337.1:c.5973_5974insGT	XP_024305105.1:p.Ser1992ValfsTer7
NM_014363.6:c.5946_5947insGT MANE Select	NP_055178.3:p.Ser1983ValfsTer7
NM_001278055.2:c.5505_5506insGT	NP_001264984.1:p.Ser1836ValfsTer7