Canonical Allele Identifier: CA2695199199
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2678540
ClinVar RCV Id: RCV003466350

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330959_23331106del , CM000675.2:g.23330959_23331106del GRCh38
NC_000013.10:g.23905098_23905245del , CM000675.1:g.23905098_23905245del GRCh37
NC_000013.9:g.22803098_22803245del NCBI36
NG_012342.1:g.107597_107744del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-18991_2186-18844del ENSP00000508399.1:n.2186-18991_2186-18844...
ENST00000682944.1:c.12797_12944del ENSP00000507173.1:p.Ser4266ThrfsTer2
ENST00000683210.1:c.2185+22679_2185+22826del ENSP00000506739.1:n.2185+22679_2185+22826...
ENST00000683270.1:c.6446-1622_6446-1475del ENSP00000507624.1:n.6446-1622_6446-1475de...
ENST00000683367.1:c.2177-1622_2177-1475del ENSP00000507780.1:n.2177-1622_2177-1475de...
ENST00000683489.1:c.2292-1154_2292-1007del ENSP00000508403.1:n.2292-1154_2292-1007de...
ENST00000683680.1:c.2319-1154_2319-1007del ENSP00000507223.1:n.2319-1154_2319-1007de...
ENST00000684163.1:c.2204-1622_2204-1475del ENSP00000508262.1:n.2204-1622_2204-1475de...
ENST00000684196.1:n.4543-1622_4543-1475del
ENST00000684325.1:c.2186-9432_2186-9285del ENSP00000508121.1:n.2186-9432_2186-9285de...
ENST00000684385.1:c.2221-1622_2221-1475del ENSP00000507855.1:n.2221-1622_2221-1475de...
ENST00000684497.1:c.2186-8462_2186-8315del ENSP00000507057.1:n.2186-8462_2186-8315de...
ENST00000382292.9:c.12770_12917del MANE Select ENSP00000371729.3:p.Ser4257ThrfsTer2
ENST00000423156.2:c.2186-1622_2186-1475del ENSP00000390925.2:n.2186-1622_2186-1475de...
ENST00000455470.6:c.2432-1622_2432-1475del ENSP00000406565.2:n.2432-1622_2432-1475de...
ENST00000382292.7:c.12770_12917del ENSP00000371729.3:p.Ser4257ThrfsTer2
ENST00000382298.7:c.12770_12917del ENSP00000371735.3:p.Ser4257ThrfsTer2
ENST00000402364.1:c.10520_10667del ENSP00000385844.1:p.Ser3507ThrfsTer2
ENST00000423156.1:c.1058-1622_1058-1475del ENSP00000390925.1:n.1058-1622_1058-1475de...
ENST00000455470.5:c.2130-1622_2130-1475del
NM_001278055.1:c.12329_12476del NP_001264984.1:p.Ser4110ThrfsTer2
NM_014363.5:c.12770_12917del NP_055178.3:p.Ser4257ThrfsTer2
XM_005266338.1:c.12797_12944del XP_005266395.1:p.Ser4266ThrfsTer2
XM_011535038.1:c.12821_12968del XP_011533340.1:p.Ser4274ThrfsTer2
XM_011535039.1:c.12788_12935del XP_011533341.1:p.Ser4263ThrfsTer2
XM_005266338.2:c.12797_12944del XP_005266395.1:p.Ser4266ThrfsTer2
XM_011535039.2:c.12788_12935del XP_011533341.1:p.Ser4263ThrfsTer2
XM_017020539.1:c.12761_12908del XP_016876028.1:p.Ser4254ThrfsTer2
XM_024449337.1:c.12797_12944del XP_024305105.1:p.Ser4266ThrfsTer2
NM_014363.6:c.12770_12917del MANE Select NP_055178.3:p.Ser4257ThrfsTer2
NM_001278055.2:c.12329_12476del NP_001264984.1:p.Ser4110ThrfsTer2