Canonical Allele Identifier: CA16613883
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 411690
dbSNP Id: rs1060503431

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334314_23334317del , CM000675.2:g.23334314_23334317del GRCh38
NC_000013.10:g.23908453_23908456del , CM000675.1:g.23908453_23908456del GRCh37
NC_000013.9:g.22806453_22806456del NCBI36
NG_012342.1:g.104388_104391del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19470_2185+19473del ENSP00000508399.1:n.2185+19470_2185+19473...
ENST00000682944.1:c.9588_9591del ENSP00000507173.1:p.Phe3197Ter
ENST00000683210.1:c.2185+19470_2185+19473del ENSP00000506739.1:n.2185+19470_2185+19473...
ENST00000683270.1:c.6445+3107_6445+3110del ENSP00000507624.1:n.6445+3107_6445+3110de...
ENST00000683367.1:c.2177-4831_2177-4828del ENSP00000507780.1:n.2177-4831_2177-4828de...
ENST00000683489.1:c.2292-4363_2292-4360del ENSP00000508403.1:n.2292-4363_2292-4360de...
ENST00000683680.1:c.2319-4363_2319-4360del ENSP00000507223.1:n.2319-4363_2319-4360de...
ENST00000684163.1:c.2204-4831_2204-4828del ENSP00000508262.1:n.2204-4831_2204-4828de...
ENST00000684196.1:n.4543-4831_4543-4828del
ENST00000684325.1:c.2186-12641_2186-12638del ENSP00000508121.1:n.2186-12641_2186-12638...
ENST00000684385.1:c.2221-4831_2221-4828del ENSP00000507855.1:n.2221-4831_2221-4828de...
ENST00000684497.1:c.2186-11671_2186-11668del ENSP00000507057.1:n.2186-11671_2186-11668...
ENST00000382292.9:c.9561_9564del MANE Select ENSP00000371729.3:p.Phe3188Ter
ENST00000423156.2:c.2186-4831_2186-4828del ENSP00000390925.2:n.2186-4831_2186-4828de...
ENST00000455470.6:c.2432-4831_2432-4828del ENSP00000406565.2:n.2432-4831_2432-4828de...
ENST00000382292.7:c.9561_9564del ENSP00000371729.3:p.Phe3188Ter
ENST00000382298.7:c.9561_9564del ENSP00000371735.3:p.Phe3188Ter
ENST00000402364.1:c.7311_7314del ENSP00000385844.1:p.Phe2438Ter
ENST00000423156.1:c.1058-4831_1058-4828del ENSP00000390925.1:n.1058-4831_1058-4828de...
ENST00000455470.5:c.2130-4831_2130-4828del
NM_001278055.1:c.9120_9123del NP_001264984.1:p.Phe3041Ter
NM_014363.5:c.9561_9564del NP_055178.3:p.Phe3188Ter
XM_005266338.1:c.9588_9591del XP_005266395.1:p.Phe3197Ter
XM_011535038.1:c.9612_9615del XP_011533340.1:p.Phe3205Ter
XM_011535039.1:c.9579_9582del XP_011533341.1:p.Phe3194Ter
XM_005266338.2:c.9588_9591del XP_005266395.1:p.Phe3197Ter
XM_011535039.2:c.9579_9582del XP_011533341.1:p.Phe3194Ter
XM_017020539.1:c.9552_9555del XP_016876028.1:p.Phe3185Ter
XM_024449337.1:c.9588_9591del XP_024305105.1:p.Phe3197Ter
NM_014363.6:c.9561_9564del MANE Select NP_055178.3:p.Phe3188Ter
NM_001278055.2:c.9120_9123del NP_001264984.1:p.Phe3041Ter