Canonical Allele Identifier: CA2078628519
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330754_23330756delinsCCT , CM000675.2:g.23330754_23330756delinsCCT GRCh38
NC_000013.10:g.23904893_23904895delinsCCT , CM000675.1:g.23904893_23904895delinsCCT GRCh37
NC_000013.9:g.22802893_22802895delinsCCT NCBI36
NG_012342.1:g.107947_107949delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18641_2186-18639delinsAGG ENSP00000508399.1:n.2186-18641_2186-18639delinsAGG
ENST00000682944.1:c.13147_13149delinsAGG ENSP00000507173.1:p.Arg4383=
ENST00000683210.1:c.2185+23029_2185+23031delinsAGG ENSP00000506739.1:n.2185+23029_2185+23031delinsAGG
ENST00000683270.1:c.6446-1272_6446-1270delinsAGG ENSP00000507624.1:n.6446-1272_6446-1270delinsAGG
ENST00000683367.1:c.2177-1272_2177-1270delinsAGG ENSP00000507780.1:n.2177-1272_2177-1270delinsAGG
ENST00000683489.1:c.2292-804_2292-802delinsAGG ENSP00000508403.1:n.2292-804_2292-802delinsAGG
ENST00000683680.1:c.2319-804_2319-802delinsAGG ENSP00000507223.1:n.2319-804_2319-802delinsAGG
ENST00000684163.1:c.2204-1272_2204-1270delinsAGG ENSP00000508262.1:n.2204-1272_2204-1270delinsAGG
ENST00000684196.1:n.4543-1272_4543-1270delinsAGG
ENST00000684325.1:c.2186-9082_2186-9080delinsAGG ENSP00000508121.1:n.2186-9082_2186-9080delinsAGG
ENST00000684385.1:c.2221-1272_2221-1270delinsAGG ENSP00000507855.1:n.2221-1272_2221-1270delinsAGG
ENST00000684497.1:c.2186-8112_2186-8110delinsAGG ENSP00000507057.1:n.2186-8112_2186-8110delinsAGG
ENST00000382292.9:c.13120_13122delinsAGG MANE Select ENSP00000371729.3:p.Arg4374=
ENST00000423156.2:c.2186-1272_2186-1270delinsAGG ENSP00000390925.2:n.2186-1272_2186-1270delinsAGG
ENST00000455470.6:c.2432-1272_2432-1270delinsAGG ENSP00000406565.2:n.2432-1272_2432-1270delinsAGG
ENST00000382292.7:c.13120_13122delinsAGG ENSP00000371729.3:p.Arg4374=
ENST00000382298.7:c.13120_13122delinsAGG ENSP00000371735.3:p.Arg4374=
ENST00000402364.1:c.10870_10872delinsAGG ENSP00000385844.1:p.Arg3624=
ENST00000423156.1:c.1058-1272_1058-1270delinsAGG ENSP00000390925.1:n.1058-1272_1058-1270delinsAGG
ENST00000455470.5:c.2130-1272_2130-1270delinsAGG
NM_001278055.1:c.12679_12681delinsAGG NP_001264984.1:p.Arg4227=
NM_014363.5:c.13120_13122delinsAGG NP_055178.3:p.Arg4374=
XM_005266338.1:c.13147_13149delinsAGG XP_005266395.1:p.Arg4383=
XM_011535038.1:c.13171_13173delinsAGG XP_011533340.1:p.Arg4391=
XM_011535039.1:c.13138_13140delinsAGG XP_011533341.1:p.Arg4380=
XM_005266338.2:c.13147_13149delinsAGG XP_005266395.1:p.Arg4383=
XM_011535039.2:c.13138_13140delinsAGG XP_011533341.1:p.Arg4380=
XM_017020539.1:c.13111_13113delinsAGG XP_016876028.1:p.Arg4371=
XM_024449337.1:c.13147_13149delinsAGG XP_024305105.1:p.Arg4383=
NM_014363.6:c.13120_13122delinsAGG MANE Select NP_055178.3:p.Arg4374=
NM_001278055.2:c.12679_12681delinsAGG NP_001264984.1:p.Arg4227=