Canonical Allele Identifier: CA2078642749

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340555_23340556delinsTG , CM000675.2:g.23340555_23340556delinsTG	GRCh38
NC_000013.10:g.23914694_23914695delinsTG , CM000675.1:g.23914694_23914695delinsTG	GRCh37
NC_000013.9:g.22812694_22812695delinsTG	NCBI36
NG_012342.1:g.98147_98148delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13229_2185+13230delinsCA	ENSP00000508399.1:n.2185+13229_2185+13230delinsCA
ENST00000682944.1:c.3347_3348delinsCA	ENSP00000507173.1:p.Ala1116=
ENST00000683210.1:c.2185+13229_2185+13230delinsCA	ENSP00000506739.1:n.2185+13229_2185+13230delinsCA
ENST00000683270.1:c.3311_3312delinsCA	ENSP00000507624.1:p.Ala1104=
ENST00000683367.1:c.2177-11072_2177-11071delinsCA	ENSP00000507780.1:n.2177-11072_2177-11071delinsCA
ENST00000683489.1:c.2291+1029_2291+1030delinsCA	ENSP00000508403.1:n.2291+1029_2291+1030delinsCA
ENST00000683680.1:c.2318+1029_2318+1030delinsCA	ENSP00000507223.1:n.2318+1029_2318+1030delinsCA
ENST00000684163.1:c.2203+6255_2203+6256delinsCA	ENSP00000508262.1:n.2203+6255_2203+6256delinsCA
ENST00000684196.1:n.4543-11072_4543-11071delinsCA
ENST00000684325.1:c.2185+13229_2185+13230delinsCA	ENSP00000508121.1:n.2185+13229_2185+13230delinsCA
ENST00000684385.1:c.2220+6255_2220+6256delinsCA	ENSP00000507855.1:n.2220+6255_2220+6256delinsCA
ENST00000684497.1:c.2185+13229_2185+13230delinsCA	ENSP00000507057.1:n.2185+13229_2185+13230delinsCA
ENST00000382292.9:c.3320_3321delinsCA MANE Select	ENSP00000371729.3:p.Ala1107=
ENST00000423156.2:c.2186-11072_2186-11071delinsCA	ENSP00000390925.2:n.2186-11072_2186-11071delinsCA
ENST00000455470.6:c.2431+889_2431+890delinsCA	ENSP00000406565.2:n.2431+889_2431+890delinsCA
ENST00000382292.7:c.3320_3321delinsCA	ENSP00000371729.3:p.Ala1107=
ENST00000382298.7:c.3320_3321delinsCA	ENSP00000371735.3:p.Ala1107=
ENST00000402364.1:c.1070_1071delinsCA	ENSP00000385844.1:p.Ala357=
ENST00000423156.1:c.1058-11072_1058-11071delinsCA	ENSP00000390925.1:n.1058-11072_1058-11071delinsCA
ENST00000455470.5:c.2129+889_2129+890delinsCA
NM_001278055.1:c.2879_2880delinsCA	NP_001264984.1:p.Ala960=
NM_014363.5:c.3320_3321delinsCA	NP_055178.3:p.Ala1107=
XM_005266338.1:c.3347_3348delinsCA	XP_005266395.1:p.Ala1116=
XM_011535038.1:c.3371_3372delinsCA	XP_011533340.1:p.Ala1124=
XM_011535039.1:c.3338_3339delinsCA	XP_011533341.1:p.Ala1113=
XM_005266338.2:c.3347_3348delinsCA	XP_005266395.1:p.Ala1116=
XM_011535039.2:c.3338_3339delinsCA	XP_011533341.1:p.Ala1113=
XM_017020539.1:c.3311_3312delinsCA	XP_016876028.1:p.Ala1104=
XM_024449337.1:c.3347_3348delinsCA	XP_024305105.1:p.Ala1116=
NM_014363.6:c.3320_3321delinsCA MANE Select	NP_055178.3:p.Ala1107=
NM_001278055.2:c.2879_2880delinsCA	NP_001264984.1:p.Ala960=