Canonical Allele Identifier: CA2695199222
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2678560
ClinVar RCV Id: RCV003466370

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334500del , CM000675.2:g.23334500del GRCh38
NC_000013.10:g.23908639del , CM000675.1:g.23908639del GRCh37
NC_000013.9:g.22806639del NCBI36
NG_012342.1:g.104203del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19285del ENSP00000508399.1:n.2185+19285del
ENST00000682944.1:c.9403del ENSP00000507173.1:p.Leu3135Ter
ENST00000683210.1:c.2185+19285del ENSP00000506739.1:n.2185+19285del
ENST00000683270.1:c.6445+2922del ENSP00000507624.1:n.6445+2922del
ENST00000683367.1:c.2177-5016del ENSP00000507780.1:n.2177-5016del
ENST00000683489.1:c.2292-4548del ENSP00000508403.1:n.2292-4548del
ENST00000683680.1:c.2319-4548del ENSP00000507223.1:n.2319-4548del
ENST00000684163.1:c.2204-5016del ENSP00000508262.1:n.2204-5016del
ENST00000684196.1:n.4543-5016del
ENST00000684325.1:c.2186-12826del ENSP00000508121.1:n.2186-12826del
ENST00000684385.1:c.2221-5016del ENSP00000507855.1:n.2221-5016del
ENST00000684497.1:c.2186-11856del ENSP00000507057.1:n.2186-11856del
ENST00000382292.9:c.9376del MANE Select ENSP00000371729.3:p.Leu3126Ter
ENST00000423156.2:c.2186-5016del ENSP00000390925.2:n.2186-5016del
ENST00000455470.6:c.2432-5016del ENSP00000406565.2:n.2432-5016del
ENST00000382292.7:c.9376del ENSP00000371729.3:p.Leu3126Ter
ENST00000382298.7:c.9376del ENSP00000371735.3:p.Leu3126Ter
ENST00000402364.1:c.7126del ENSP00000385844.1:p.Leu2376Ter
ENST00000423156.1:c.1058-5016del ENSP00000390925.1:n.1058-5016del
ENST00000455470.5:c.2130-5016del
NM_001278055.1:c.8935del NP_001264984.1:p.Leu2979Ter
NM_014363.5:c.9376del NP_055178.3:p.Leu3126Ter
XM_005266338.1:c.9403del XP_005266395.1:p.Leu3135Ter
XM_011535038.1:c.9427del XP_011533340.1:p.Leu3143Ter
XM_011535039.1:c.9394del XP_011533341.1:p.Leu3132Ter
XM_005266338.2:c.9403del XP_005266395.1:p.Leu3135Ter
XM_011535039.2:c.9394del XP_011533341.1:p.Leu3132Ter
XM_017020539.1:c.9367del XP_016876028.1:p.Leu3123Ter
XM_024449337.1:c.9403del XP_024305105.1:p.Leu3135Ter
NM_014363.6:c.9376del MANE Select NP_055178.3:p.Leu3126Ter
NM_001278055.2:c.8935del NP_001264984.1:p.Leu2979Ter