Canonical Allele Identifier: CA2078643189
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23340809_23340810delinsGA , CM000675.2:g.23340809_23340810delinsGA GRCh38
NC_000013.10:g.23914948_23914949delinsGA , CM000675.1:g.23914948_23914949delinsGA GRCh37
NC_000013.9:g.22812948_22812949delinsGA NCBI36
NG_012342.1:g.97893_97894delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+12975_2185+12976delinsTC ENSP00000508399.1:n.2185+12975_2185+12976...
ENST00000682944.1:c.3093_3094delinsTC ENSP00000507173.1:p.Ser1031=
ENST00000683210.1:c.2185+12975_2185+12976delinsTC ENSP00000506739.1:n.2185+12975_2185+12976...
ENST00000683270.1:c.3057_3058delinsTC ENSP00000507624.1:p.Ser1019=
ENST00000683367.1:c.2177-11326_2177-11325delinsTC ENSP00000507780.1:n.2177-11326_2177-11325...
ENST00000683489.1:c.2291+775_2291+776delinsTC ENSP00000508403.1:n.2291+775_2291+776deli...
ENST00000683680.1:c.2318+775_2318+776delinsTC ENSP00000507223.1:n.2318+775_2318+776deli...
ENST00000684163.1:c.2203+6001_2203+6002delinsTC ENSP00000508262.1:n.2203+6001_2203+6002de...
ENST00000684196.1:n.4543-11326_4543-11325delinsTC
ENST00000684325.1:c.2185+12975_2185+12976delinsTC ENSP00000508121.1:n.2185+12975_2185+12976...
ENST00000684385.1:c.2220+6001_2220+6002delinsTC ENSP00000507855.1:n.2220+6001_2220+6002de...
ENST00000684497.1:c.2185+12975_2185+12976delinsTC ENSP00000507057.1:n.2185+12975_2185+12976...
ENST00000382292.9:c.3066_3067delinsTC MANE Select ENSP00000371729.3:p.Ser1022=
ENST00000423156.2:c.2186-11326_2186-11325delinsTC ENSP00000390925.2:n.2186-11326_2186-11325...
ENST00000455470.6:c.2431+635_2431+636delinsTC ENSP00000406565.2:n.2431+635_2431+636deli...
ENST00000382292.7:c.3066_3067delinsTC ENSP00000371729.3:p.Ser1022=
ENST00000382298.7:c.3066_3067delinsTC ENSP00000371735.3:p.Ser1022=
ENST00000402364.1:c.816_817delinsTC ENSP00000385844.1:p.Ser272=
ENST00000423156.1:c.1058-11326_1058-11325delinsTC ENSP00000390925.1:n.1058-11326_1058-11325...
ENST00000455470.5:c.2129+635_2129+636delinsTC
NM_001278055.1:c.2625_2626delinsTC NP_001264984.1:p.Ser875=
NM_014363.5:c.3066_3067delinsTC NP_055178.3:p.Ser1022=
XM_005266338.1:c.3093_3094delinsTC XP_005266395.1:p.Ser1031=
XM_011535038.1:c.3117_3118delinsTC XP_011533340.1:p.Ser1039=
XM_011535039.1:c.3084_3085delinsTC XP_011533341.1:p.Ser1028=
XM_005266338.2:c.3093_3094delinsTC XP_005266395.1:p.Ser1031=
XM_011535039.2:c.3084_3085delinsTC XP_011533341.1:p.Ser1028=
XM_017020539.1:c.3057_3058delinsTC XP_016876028.1:p.Ser1019=
XM_024449337.1:c.3093_3094delinsTC XP_024305105.1:p.Ser1031=
NM_014363.6:c.3066_3067delinsTC MANE Select NP_055178.3:p.Ser1022=
NM_001278055.2:c.2625_2626delinsTC NP_001264984.1:p.Ser875=