Canonical Allele Identifier: CA16619618
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 422924
ClinVar RCV Id: RCV000479181
dbSNP Id: rs1064796097

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334338_23334342del , CM000675.2:g.23334338_23334342del GRCh38
NC_000013.10:g.23908477_23908481del , CM000675.1:g.23908477_23908481del GRCh37
NC_000013.9:g.22806477_22806481del NCBI36
NG_012342.1:g.104364_104368del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19446_2185+19450del ENSP00000508399.1:n.2185+19446_2185+19450...
ENST00000682944.1:c.9564_9568del ENSP00000507173.1:p.Glu3188AspfsTer17
ENST00000683210.1:c.2185+19446_2185+19450del ENSP00000506739.1:n.2185+19446_2185+19450...
ENST00000683270.1:c.6445+3083_6445+3087del ENSP00000507624.1:n.6445+3083_6445+3087de...
ENST00000683367.1:c.2177-4855_2177-4851del ENSP00000507780.1:n.2177-4855_2177-4851de...
ENST00000683489.1:c.2292-4387_2292-4383del ENSP00000508403.1:n.2292-4387_2292-4383de...
ENST00000683680.1:c.2319-4387_2319-4383del ENSP00000507223.1:n.2319-4387_2319-4383de...
ENST00000684163.1:c.2204-4855_2204-4851del ENSP00000508262.1:n.2204-4855_2204-4851de...
ENST00000684196.1:n.4543-4855_4543-4851del
ENST00000684325.1:c.2186-12665_2186-12661del ENSP00000508121.1:n.2186-12665_2186-12661...
ENST00000684385.1:c.2221-4855_2221-4851del ENSP00000507855.1:n.2221-4855_2221-4851de...
ENST00000684497.1:c.2186-11695_2186-11691del ENSP00000507057.1:n.2186-11695_2186-11691...
ENST00000382292.9:c.9537_9541del MANE Select ENSP00000371729.3:p.Glu3179AspfsTer17
ENST00000423156.2:c.2186-4855_2186-4851del ENSP00000390925.2:n.2186-4855_2186-4851de...
ENST00000455470.6:c.2432-4855_2432-4851del ENSP00000406565.2:n.2432-4855_2432-4851de...
ENST00000382292.7:c.9537_9541del ENSP00000371729.3:p.Glu3179AspfsTer17
ENST00000382298.7:c.9537_9541del ENSP00000371735.3:p.Glu3179AspfsTer17
ENST00000402364.1:c.7287_7291del ENSP00000385844.1:p.Glu2429AspfsTer17
ENST00000423156.1:c.1058-4855_1058-4851del ENSP00000390925.1:n.1058-4855_1058-4851de...
ENST00000455470.5:c.2130-4855_2130-4851del
NM_001278055.1:c.9096_9100del NP_001264984.1:p.Glu3032AspfsTer17
NM_014363.5:c.9537_9541del NP_055178.3:p.Glu3179AspfsTer17
XM_005266338.1:c.9564_9568del XP_005266395.1:p.Glu3188AspfsTer17
XM_011535038.1:c.9588_9592del XP_011533340.1:p.Glu3196AspfsTer17
XM_011535039.1:c.9555_9559del XP_011533341.1:p.Glu3185AspfsTer17
XM_005266338.2:c.9564_9568del XP_005266395.1:p.Glu3188AspfsTer17
XM_011535039.2:c.9555_9559del XP_011533341.1:p.Glu3185AspfsTer17
XM_017020539.1:c.9528_9532del XP_016876028.1:p.Glu3176AspfsTer17
XM_024449337.1:c.9564_9568del XP_024305105.1:p.Glu3188AspfsTer17
NM_014363.6:c.9537_9541del MANE Select NP_055178.3:p.Glu3179AspfsTer17
NM_001278055.2:c.9096_9100del NP_001264984.1:p.Glu3032AspfsTer17