Canonical Allele Identifier: CA16620689
Gene: SETBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423032
ClinVar RCV Id: RCV000487097
dbSNP Id: rs1064796181
MyVariant Identifiers: chr18:g.42530981del (hg19) chr18:g.44951016del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.44951016del , CM000680.2:g.44951016del GRCh38
NC_000018.9:g.42530981del , CM000680.1:g.42530981del GRCh37
NC_000018.8:g.40784979del NCBI36
NG_027527.1:g.275844del
NG_027527.2:g.275844del

Transcript Alleles

HGVS Amino-acid change
ENST00000649279.2:c.1676del MANE Select ENSP00000497406.1:p.Pro559ArgfsTer21
ENST00000677068.1:c.1676del ENSP00000504398.1:p.Pro559ArgfsTer21
ENST00000677077.1:c.1676del ENSP00000503656.1:p.Pro559ArgfsTer21
ENST00000677130.1:c.1676del ENSP00000503094.1:p.Pro559ArgfsTer21
ENST00000677699.1:c.1676del ENSP00000503964.1:p.Pro559ArgfsTer21
ENST00000678152.1:c.1676del ENSP00000502995.1:p.Pro559ArgfsTer21
ENST00000282030.5:c.1676del ENSP00000282030.5:p.Pro559ArgfsTer21
NM_015559.2:c.1676del NP_056374.2:p.Pro559ArgfsTer21
XM_005258243.3:c.1676del XP_005258300.1:p.Pro559ArgfsTer21
NM_015559.3:c.1676del MANE Select NP_056374.2:p.Pro559ArgfsTer21
XM_024451149.1:c.1754del XP_024306917.1:p.Pro585ArgfsTer21
XM_024451150.1:c.1754del XP_024306918.1:p.Pro585ArgfsTer21
XM_024451151.1:c.1754del XP_024306919.1:p.Pro585ArgfsTer21
XM_024451152.1:c.1754del XP_024306920.1:p.Pro585ArgfsTer21
XM_024451153.1:c.1676del XP_024306921.1:p.Pro559ArgfsTer21
XM_024451154.1:c.1676del XP_024306922.1:p.Pro559ArgfsTer21
XM_024451155.1:c.1676del XP_024306923.1:p.Pro559ArgfsTer21
XM_024451156.1:c.1754del XP_024306924.1:p.Pro585ArgfsTer21
XM_024451157.1:c.1199del XP_024306925.1:p.Pro400ArgfsTer21
XM_024451158.1:c.1754del XP_024306926.1:p.Pro585ArgfsTer21
NM_001379141.1:c.1676del NP_001366070.1:p.Pro559ArgfsTer21
NM_001379142.1:c.1676del NP_001366071.1:p.Pro559ArgfsTer21
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