Canonical Allele Identifier: CA16041624
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 371474
ClinVar RCV Id: RCV000411394
dbSNP Id: rs1057517301
MyVariant Identifiers: chr13:g.23911211del (hg19) chr13:g.23337072del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23337075del , CM000675.2:g.23337075del GRCh38
NC_000013.10:g.23911214del , CM000675.1:g.23911214del GRCh37
NC_000013.9:g.22809214del NCBI36
NG_012342.1:g.101631del

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2185+16713del ENSP00000508399.1:n.2185+16713del
ENST00000682944.1:c.6831del ENSP00000507173.1:p.Phe2277LeufsTer27
ENST00000683210.1:c.2185+16713del ENSP00000506739.1:n.2185+16713del
ENST00000683270.1:c.6445+350del ENSP00000507624.1:n.6445+350del
ENST00000683367.1:c.2177-7588del ENSP00000507780.1:n.2177-7588del
ENST00000683489.1:c.2291+4513del ENSP00000508403.1:n.2291+4513del
ENST00000683680.1:c.2318+4513del ENSP00000507223.1:n.2318+4513del
ENST00000684163.1:c.2204-7588del ENSP00000508262.1:n.2204-7588del
ENST00000684196.1:n.4543-7588del
ENST00000684325.1:c.2186-15398del ENSP00000508121.1:n.2186-15398del
ENST00000684385.1:c.2221-7588del ENSP00000507855.1:n.2221-7588del
ENST00000684497.1:c.2186-14428del ENSP00000507057.1:n.2186-14428del
ENST00000382292.9:c.6804del MANE Select ENSP00000371729.3:p.Phe2268LeufsTer27
ENST00000423156.2:c.2186-7588del ENSP00000390925.2:n.2186-7588del
ENST00000455470.6:c.2431+4373del ENSP00000406565.2:n.2431+4373del
ENST00000382292.7:c.6804del ENSP00000371729.3:p.Phe2268LeufsTer27
ENST00000382298.7:c.6804del ENSP00000371735.3:p.Phe2268LeufsTer27
ENST00000402364.1:c.4554del ENSP00000385844.1:p.Phe1518LeufsTer27
ENST00000423156.1:c.1058-7588del ENSP00000390925.1:n.1058-7588del
ENST00000455470.5:c.2129+4373del
NM_001278055.1:c.6363del NP_001264984.1:p.Phe2121LeufsTer27
NM_014363.5:c.6804del NP_055178.3:p.Phe2268LeufsTer27
XM_005266338.1:c.6831del XP_005266395.1:p.Phe2277LeufsTer27
XM_011535038.1:c.6855del XP_011533340.1:p.Phe2285LeufsTer27
XM_011535039.1:c.6822del XP_011533341.1:p.Phe2274LeufsTer27
XM_005266338.2:c.6831del XP_005266395.1:p.Phe2277LeufsTer27
XM_011535039.2:c.6822del XP_011533341.1:p.Phe2274LeufsTer27
XM_017020539.1:c.6795del XP_016876028.1:p.Phe2265LeufsTer27
XM_024449337.1:c.6831del XP_024305105.1:p.Phe2277LeufsTer27
NM_014363.6:c.6804del MANE Select NP_055178.3:p.Phe2268LeufsTer27
NM_001278055.2:c.6363del NP_001264984.1:p.Phe2121LeufsTer27
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