Canonical Allele Identifier: CA16041619
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 370374
ClinVar RCV Id: RCV000410665
dbSNP Id: rs1057516438

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23336355_23336358del , CM000675.2:g.23336355_23336358del GRCh38
NC_000013.10:g.23910494_23910497del , CM000675.1:g.23910494_23910497del GRCh37
NC_000013.9:g.22808494_22808497del NCBI36
NG_012342.1:g.102348_102351del

Transcript Alleles

HGVS Amino-acid change
ENST00000382292.9:c.7521_7524del MANE Select ENSP00000371729.3:p.Glu2507AspfsTer21
ENST00000423156.2:c.2186-6871_2186-6868del ENSP00000390925.2:p.=
ENST00000455470.6:c.2431+5090_2431+5093del ENSP00000406565.2:p.=
ENST00000382292.7:c.7521_7524del ENSP00000371729.3:p.Glu2507AspfsTer21
ENST00000382298.7:c.7521_7524del ENSP00000371735.3:p.Glu2507AspfsTer21
ENST00000402364.1:c.5271_5274del ENSP00000385844.1:p.Glu1757AspfsTer21
ENST00000423156.1:n.1058-6871_1058-6868del ENSP00000390925.1:p.=
ENST00000455470.5:n.2129+5090_2129+5093del
NM_001278055.1:c.7080_7083del NP_001264984.1:p.Glu2360AspfsTer21
NM_014363.5:c.7521_7524del NP_055178.3:p.Glu2507AspfsTer21
XM_005266338.1:c.7548_7551del XP_005266395.1:p.Glu2516AspfsTer21
XM_011535038.1:c.7572_7575del XP_011533340.1:p.Glu2524AspfsTer21
XM_011535039.1:c.7539_7542del XP_011533341.1:p.Glu2513AspfsTer21
XM_005266338.2:c.7548_7551del XP_005266395.1:p.Glu2516AspfsTer21
XM_011535039.2:c.7539_7542del XP_011533341.1:p.Glu2513AspfsTer21
XM_017020539.1:c.7512_7515del XP_016876028.1:p.Glu2504AspfsTer21
XM_024449337.1:c.7548_7551del XP_024305105.1:p.Glu2516AspfsTer21
NM_014363.6:c.7521_7524del MANE Select NP_055178.3:p.Glu2507AspfsTer21
NM_001278055.2:c.7080_7083del NP_001264984.1:p.Glu2360AspfsTer21