Canonical Allele Identifier: CA2078627780

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337585_23337586delinsAC , CM000675.2:g.23337585_23337586delinsAC	GRCh38
NC_000013.10:g.23911724_23911725delinsAC , CM000675.1:g.23911724_23911725delinsAC	GRCh37
NC_000013.9:g.22809724_22809725delinsAC	NCBI36
NG_012342.1:g.101117_101118delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16199_2185+16200delinsGT	ENSP00000508399.1:n.2185+16199_2185+16200delinsGT
ENST00000682944.1:c.6317_6318delinsGT	ENSP00000507173.1:p.Cys2106=
ENST00000683210.1:c.2185+16199_2185+16200delinsGT	ENSP00000506739.1:n.2185+16199_2185+16200delinsGT
ENST00000683270.1:c.6281_6282delinsGT	ENSP00000507624.1:p.Cys2094=
ENST00000683367.1:c.2177-8102_2177-8101delinsGT	ENSP00000507780.1:n.2177-8102_2177-8101delinsGT
ENST00000683489.1:c.2291+3999_2291+4000delinsGT	ENSP00000508403.1:n.2291+3999_2291+4000delinsGT
ENST00000683680.1:c.2318+3999_2318+4000delinsGT	ENSP00000507223.1:n.2318+3999_2318+4000delinsGT
ENST00000684163.1:c.2204-8102_2204-8101delinsGT	ENSP00000508262.1:n.2204-8102_2204-8101delinsGT
ENST00000684196.1:n.4543-8102_4543-8101delinsGT
ENST00000684325.1:c.2186-15912_2186-15911delinsGT	ENSP00000508121.1:n.2186-15912_2186-15911delinsGT
ENST00000684385.1:c.2221-8102_2221-8101delinsGT	ENSP00000507855.1:n.2221-8102_2221-8101delinsGT
ENST00000684497.1:c.2186-14942_2186-14941delinsGT	ENSP00000507057.1:n.2186-14942_2186-14941delinsGT
ENST00000382292.9:c.6290_6291delinsGT MANE Select	ENSP00000371729.3:p.Cys2097=
ENST00000423156.2:c.2186-8102_2186-8101delinsGT	ENSP00000390925.2:n.2186-8102_2186-8101delinsGT
ENST00000455470.6:c.2431+3859_2431+3860delinsGT	ENSP00000406565.2:n.2431+3859_2431+3860delinsGT
ENST00000382292.7:c.6290_6291delinsGT	ENSP00000371729.3:p.Cys2097=
ENST00000382298.7:c.6290_6291delinsGT	ENSP00000371735.3:p.Cys2097=
ENST00000402364.1:c.4040_4041delinsGT	ENSP00000385844.1:p.Cys1347=
ENST00000423156.1:c.1058-8102_1058-8101delinsGT	ENSP00000390925.1:n.1058-8102_1058-8101delinsGT
ENST00000455470.5:c.2129+3859_2129+3860delinsGT
NM_001278055.1:c.5849_5850delinsGT	NP_001264984.1:p.Cys1950=
NM_014363.5:c.6290_6291delinsGT	NP_055178.3:p.Cys2097=
XM_005266338.1:c.6317_6318delinsGT	XP_005266395.1:p.Cys2106=
XM_011535038.1:c.6341_6342delinsGT	XP_011533340.1:p.Cys2114=
XM_011535039.1:c.6308_6309delinsGT	XP_011533341.1:p.Cys2103=
XM_005266338.2:c.6317_6318delinsGT	XP_005266395.1:p.Cys2106=
XM_011535039.2:c.6308_6309delinsGT	XP_011533341.1:p.Cys2103=
XM_017020539.1:c.6281_6282delinsGT	XP_016876028.1:p.Cys2094=
XM_024449337.1:c.6317_6318delinsGT	XP_024305105.1:p.Cys2106=
NM_014363.6:c.6290_6291delinsGT MANE Select	NP_055178.3:p.Cys2097=
NM_001278055.2:c.5849_5850delinsGT	NP_001264984.1:p.Cys1950=