Canonical Allele Identifier: CA2078628296

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337936_23337939delinsAGAG , CM000675.2:g.23337936_23337939delinsAGAG	GRCh38
NC_000013.10:g.23912075_23912078delinsAGAG , CM000675.1:g.23912075_23912078delinsAGAG	GRCh37
NC_000013.9:g.22810075_22810078delinsAGAG	NCBI36
NG_012342.1:g.100764_100767delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15846_2185+15849delinsCTCT	ENSP00000508399.1:n.2185+15846_2185+15849delinsCTCT
ENST00000682944.1:c.5964_5967delinsCTCT	ENSP00000507173.1:p.Phe1988=
ENST00000683210.1:c.2185+15846_2185+15849delinsCTCT	ENSP00000506739.1:n.2185+15846_2185+15849delinsCTCT
ENST00000683270.1:c.5928_5931delinsCTCT	ENSP00000507624.1:p.Phe1976=
ENST00000683367.1:c.2177-8455_2177-8452delinsCTCT	ENSP00000507780.1:n.2177-8455_2177-8452delinsCTCT
ENST00000683489.1:c.2291+3646_2291+3649delinsCTCT	ENSP00000508403.1:n.2291+3646_2291+3649delinsCTCT
ENST00000683680.1:c.2318+3646_2318+3649delinsCTCT	ENSP00000507223.1:n.2318+3646_2318+3649delinsCTCT
ENST00000684163.1:c.2204-8455_2204-8452delinsCTCT	ENSP00000508262.1:n.2204-8455_2204-8452delinsCTCT
ENST00000684196.1:n.4543-8455_4543-8452delinsCTCT
ENST00000684325.1:c.2185+15846_2185+15849delinsCTCT	ENSP00000508121.1:n.2185+15846_2185+15849delinsCTCT
ENST00000684385.1:c.2221-8455_2221-8452delinsCTCT	ENSP00000507855.1:n.2221-8455_2221-8452delinsCTCT
ENST00000684497.1:c.2186-15295_2186-15292delinsCTCT	ENSP00000507057.1:n.2186-15295_2186-15292delinsCTCT
ENST00000382292.9:c.5937_5940delinsCTCT MANE Select	ENSP00000371729.3:p.Phe1979=
ENST00000423156.2:c.2186-8455_2186-8452delinsCTCT	ENSP00000390925.2:n.2186-8455_2186-8452delinsCTCT
ENST00000455470.6:c.2431+3506_2431+3509delinsCTCT	ENSP00000406565.2:n.2431+3506_2431+3509delinsCTCT
ENST00000382292.7:c.5937_5940delinsCTCT	ENSP00000371729.3:p.Phe1979=
ENST00000382298.7:c.5937_5940delinsCTCT	ENSP00000371735.3:p.Phe1979=
ENST00000402364.1:c.3687_3690delinsCTCT	ENSP00000385844.1:p.Phe1229=
ENST00000423156.1:c.1058-8455_1058-8452delinsCTCT	ENSP00000390925.1:n.1058-8455_1058-8452delinsCTCT
ENST00000455470.5:c.2129+3506_2129+3509delinsCTCT
NM_001278055.1:c.5496_5499delinsCTCT	NP_001264984.1:p.Phe1832=
NM_014363.5:c.5937_5940delinsCTCT	NP_055178.3:p.Phe1979=
XM_005266338.1:c.5964_5967delinsCTCT	XP_005266395.1:p.Phe1988=
XM_011535038.1:c.5988_5991delinsCTCT	XP_011533340.1:p.Phe1996=
XM_011535039.1:c.5955_5958delinsCTCT	XP_011533341.1:p.Phe1985=
XM_005266338.2:c.5964_5967delinsCTCT	XP_005266395.1:p.Phe1988=
XM_011535039.2:c.5955_5958delinsCTCT	XP_011533341.1:p.Phe1985=
XM_017020539.1:c.5928_5931delinsCTCT	XP_016876028.1:p.Phe1976=
XM_024449337.1:c.5964_5967delinsCTCT	XP_024305105.1:p.Phe1988=
NM_014363.6:c.5937_5940delinsCTCT MANE Select	NP_055178.3:p.Phe1979=
NM_001278055.2:c.5496_5499delinsCTCT	NP_001264984.1:p.Phe1832=