Canonical Allele Identifier: CA16041611
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371537
ClinVar RCV Id: RCV000410981
dbSNP Id: rs1057517349

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334486_23334487del , CM000675.2:g.23334486_23334487del GRCh38
NC_000013.10:g.23908625_23908626del , CM000675.1:g.23908625_23908626del GRCh37
NC_000013.9:g.22806625_22806626del NCBI36
NG_012342.1:g.104217_104218del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+19299_2185+19300del ENSP00000508399.1:n.2185+19299_2185+19300...
ENST00000682944.1:c.9417_9418del ENSP00000507173.1:p.His3139GlnfsTer7
ENST00000683210.1:c.2185+19299_2185+19300del ENSP00000506739.1:n.2185+19299_2185+19300...
ENST00000683270.1:c.6445+2936_6445+2937del ENSP00000507624.1:n.6445+2936_6445+2937de...
ENST00000683367.1:c.2177-5002_2177-5001del ENSP00000507780.1:n.2177-5002_2177-5001de...
ENST00000683489.1:c.2292-4534_2292-4533del ENSP00000508403.1:n.2292-4534_2292-4533de...
ENST00000683680.1:c.2319-4534_2319-4533del ENSP00000507223.1:n.2319-4534_2319-4533de...
ENST00000684163.1:c.2204-5002_2204-5001del ENSP00000508262.1:n.2204-5002_2204-5001de...
ENST00000684196.1:n.4543-5002_4543-5001del
ENST00000684325.1:c.2186-12812_2186-12811del ENSP00000508121.1:n.2186-12812_2186-12811...
ENST00000684385.1:c.2221-5002_2221-5001del ENSP00000507855.1:n.2221-5002_2221-5001de...
ENST00000684497.1:c.2186-11842_2186-11841del ENSP00000507057.1:n.2186-11842_2186-11841...
ENST00000382292.9:c.9390_9391del MANE Select ENSP00000371729.3:p.His3130GlnfsTer7
ENST00000423156.2:c.2186-5002_2186-5001del ENSP00000390925.2:n.2186-5002_2186-5001de...
ENST00000455470.6:c.2432-5002_2432-5001del ENSP00000406565.2:n.2432-5002_2432-5001de...
ENST00000382292.7:c.9390_9391del ENSP00000371729.3:p.His3130GlnfsTer7
ENST00000382298.7:c.9390_9391del ENSP00000371735.3:p.His3130GlnfsTer7
ENST00000402364.1:c.7140_7141del ENSP00000385844.1:p.His2380GlnfsTer7
ENST00000423156.1:c.1058-5002_1058-5001del ENSP00000390925.1:n.1058-5002_1058-5001de...
ENST00000455470.5:c.2130-5002_2130-5001del
NM_001278055.1:c.8949_8950del NP_001264984.1:p.His2983GlnfsTer7
NM_014363.5:c.9390_9391del NP_055178.3:p.His3130GlnfsTer7
XM_005266338.1:c.9417_9418del XP_005266395.1:p.His3139GlnfsTer7
XM_011535038.1:c.9441_9442del XP_011533340.1:p.His3147GlnfsTer7
XM_011535039.1:c.9408_9409del XP_011533341.1:p.His3136GlnfsTer7
XM_005266338.2:c.9417_9418del XP_005266395.1:p.His3139GlnfsTer7
XM_011535039.2:c.9408_9409del XP_011533341.1:p.His3136GlnfsTer7
XM_017020539.1:c.9381_9382del XP_016876028.1:p.His3127GlnfsTer7
XM_024449337.1:c.9417_9418del XP_024305105.1:p.His3139GlnfsTer7
NM_014363.6:c.9390_9391del MANE Select NP_055178.3:p.His3130GlnfsTer7
NM_001278055.2:c.8949_8950del NP_001264984.1:p.His2983GlnfsTer7