Canonical Allele Identifier: CA16041654
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370608
dbSNP Id: rs1057516625

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23355422_23355423del , CM000675.2:g.23355422_23355423del GRCh38
NC_000013.10:g.23929561_23929562del , CM000675.1:g.23929561_23929562del GRCh37
NC_000013.9:g.22827561_22827562del NCBI36
NG_012342.1:g.83280_83281del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.1189_1190del ENSP00000508399.1:p.Ser397CysfsTer8
ENST00000682944.1:c.1189_1190del ENSP00000507173.1:p.Ser397CysfsTer8
ENST00000683154.1:n.1327_1328del
ENST00000683210.1:c.1189_1190del ENSP00000506739.1:p.Ser397CysfsTer8
ENST00000683270.1:c.1180_1181del ENSP00000507624.1:p.Ser394CysfsTer8
ENST00000683367.1:c.1180_1181del ENSP00000507780.1:p.Ser394CysfsTer8
ENST00000683489.1:c.1189_1190del ENSP00000508403.1:p.Ser397CysfsTer8
ENST00000683680.1:c.1189_1190del ENSP00000507223.1:p.Ser397CysfsTer8
ENST00000684163.1:c.1180_1181del ENSP00000508262.1:p.Ser394CysfsTer8
ENST00000684196.1:n.3546_3547del
ENST00000684325.1:c.1189_1190del ENSP00000508121.1:p.Ser397CysfsTer8
ENST00000684385.1:c.1189_1190del ENSP00000507855.1:p.Ser397CysfsTer8
ENST00000684497.1:c.1189_1190del ENSP00000507057.1:p.Ser397CysfsTer8
ENST00000382292.9:c.1189_1190del MANE Select ENSP00000371729.3:p.Ser397CysfsTer8
ENST00000423156.2:c.1189_1190del ENSP00000390925.2:p.Ser397CysfsTer8
ENST00000455470.6:c.1189_1190del ENSP00000406565.2:p.Ser397CysfsTer8
ENST00000382292.7:c.1189_1190del ENSP00000371729.3:p.Ser397CysfsTer8
ENST00000382298.7:c.1189_1190del ENSP00000371735.3:p.Ser397CysfsTer8
ENST00000402364.1:c.-1062_-1061del ENSP00000385844.1:n.-1062_-1061del
ENST00000423156.1:c.61_62del ENSP00000390925.1:p.Ser21CysfsTer8
ENST00000455470.5:c.887_888del
NM_001278055.1:c.748_749del NP_001264984.1:p.Ser250CysfsTer8
NM_014363.5:c.1189_1190del NP_055178.3:p.Ser397CysfsTer8
XM_005266338.1:c.1189_1190del XP_005266395.1:p.Ser397CysfsTer8
XM_011535038.1:c.1213_1214del XP_011533340.1:p.Ser405CysfsTer8
XM_011535039.1:c.1180_1181del XP_011533341.1:p.Ser394CysfsTer8
XM_005266338.2:c.1189_1190del XP_005266395.1:p.Ser397CysfsTer8
XM_011535039.2:c.1180_1181del XP_011533341.1:p.Ser394CysfsTer8
XM_017020539.1:c.1180_1181del XP_016876028.1:p.Ser394CysfsTer8
XM_024449337.1:c.1189_1190del XP_024305105.1:p.Ser397CysfsTer8
NM_014363.6:c.1189_1190del MANE Select NP_055178.3:p.Ser397CysfsTer8
NM_001278055.2:c.748_749del NP_001264984.1:p.Ser250CysfsTer8