Canonical Allele Identifier: CA2078643065

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340742_23340743delinsTC , CM000675.2:g.23340742_23340743delinsTC	GRCh38
NC_000013.10:g.23914881_23914882delinsTC , CM000675.1:g.23914881_23914882delinsTC	GRCh37
NC_000013.9:g.22812881_22812882delinsTC	NCBI36
NG_012342.1:g.97960_97961delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13042_2185+13043delinsGA	ENSP00000508399.1:n.2185+13042_2185+13043delinsGA
ENST00000682944.1:c.3160_3161delinsGA	ENSP00000507173.1:p.Glu1054=
ENST00000683210.1:c.2185+13042_2185+13043delinsGA	ENSP00000506739.1:n.2185+13042_2185+13043delinsGA
ENST00000683270.1:c.3124_3125delinsGA	ENSP00000507624.1:p.Glu1042=
ENST00000683367.1:c.2177-11259_2177-11258delinsGA	ENSP00000507780.1:n.2177-11259_2177-11258delinsGA
ENST00000683489.1:c.2291+842_2291+843delinsGA	ENSP00000508403.1:n.2291+842_2291+843delinsGA
ENST00000683680.1:c.2318+842_2318+843delinsGA	ENSP00000507223.1:n.2318+842_2318+843delinsGA
ENST00000684163.1:c.2203+6068_2203+6069delinsGA	ENSP00000508262.1:n.2203+6068_2203+6069delinsGA
ENST00000684196.1:n.4543-11259_4543-11258delinsGA
ENST00000684325.1:c.2185+13042_2185+13043delinsGA	ENSP00000508121.1:n.2185+13042_2185+13043delinsGA
ENST00000684385.1:c.2220+6068_2220+6069delinsGA	ENSP00000507855.1:n.2220+6068_2220+6069delinsGA
ENST00000684497.1:c.2185+13042_2185+13043delinsGA	ENSP00000507057.1:n.2185+13042_2185+13043delinsGA
ENST00000382292.9:c.3133_3134delinsGA MANE Select	ENSP00000371729.3:p.Glu1045=
ENST00000423156.2:c.2186-11259_2186-11258delinsGA	ENSP00000390925.2:n.2186-11259_2186-11258delinsGA
ENST00000455470.6:c.2431+702_2431+703delinsGA	ENSP00000406565.2:n.2431+702_2431+703delinsGA
ENST00000382292.7:c.3133_3134delinsGA	ENSP00000371729.3:p.Glu1045=
ENST00000382298.7:c.3133_3134delinsGA	ENSP00000371735.3:p.Glu1045=
ENST00000402364.1:c.883_884delinsGA	ENSP00000385844.1:p.Glu295=
ENST00000423156.1:c.1058-11259_1058-11258delinsGA	ENSP00000390925.1:n.1058-11259_1058-11258delinsGA
ENST00000455470.5:c.2129+702_2129+703delinsGA
NM_001278055.1:c.2692_2693delinsGA	NP_001264984.1:p.Glu898=
NM_014363.5:c.3133_3134delinsGA	NP_055178.3:p.Glu1045=
XM_005266338.1:c.3160_3161delinsGA	XP_005266395.1:p.Glu1054=
XM_011535038.1:c.3184_3185delinsGA	XP_011533340.1:p.Glu1062=
XM_011535039.1:c.3151_3152delinsGA	XP_011533341.1:p.Glu1051=
XM_005266338.2:c.3160_3161delinsGA	XP_005266395.1:p.Glu1054=
XM_011535039.2:c.3151_3152delinsGA	XP_011533341.1:p.Glu1051=
XM_017020539.1:c.3124_3125delinsGA	XP_016876028.1:p.Glu1042=
XM_024449337.1:c.3160_3161delinsGA	XP_024305105.1:p.Glu1054=
NM_014363.6:c.3133_3134delinsGA MANE Select	NP_055178.3:p.Glu1045=
NM_001278055.2:c.2692_2693delinsGA	NP_001264984.1:p.Glu898=