Canonical Allele Identifier: CA10651609
Community Standard Title: NM_015559.3(SETBP1):c.*2063_*2066del
Gene: SETBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45065761_45065764del , CM000680.2:g.45065761_45065764del GRCh38
NC_000018.9:g.42645726_42645729del , CM000680.1:g.42645726_42645729del GRCh37
NC_000018.8:g.40899724_40899727del NCBI36
NG_027527.1:g.390589_390592del
NG_027527.2:g.390589_390592del

Transcript Alleles

HGVS Amino-acid Change
NM_015559.3:c.*2063_*2066del MANE Select NP_056374.2:n.*2063_*2066del
ENST00000649279.2:c.*2063_*2066del MANE Select ENSP00000497406.1:n.*2063_*2066del
NM_001379141.1:c.*2063_*2066del NP_001366070.1:n.*2063_*2066del
NM_001379142.1:c.*2063_*2066del NP_001366071.1:n.*2063_*2066del
NM_015559.2:c.*2063_*2066del NP_056374.2:n.*2063_*2066del
ENST00000282030.5:c.*2063_*2066del ENSP00000282030.5:n.*2063_*2066del
ENST00000677077.1:c.*2063_*2066del ENSP00000503656.1:n.*2063_*2066del
ENST00000677130.1:c.*2063_*2066del ENSP00000503094.1:n.*2063_*2066del
ENST00000677699.1:c.*2063_*2066del ENSP00000503964.1:n.*2063_*2066del
ENST00000678152.1:c.*2063_*2066del ENSP00000502995.1:n.*2063_*2066del
XM_005258243.3:c.*2063_*2066del XP_005258300.1:n.*2063_*2066del
XM_024451149.1:c.*2063_*2066del XP_024306917.1:n.*2063_*2066del
XM_024451150.1:c.*2063_*2066del XP_024306918.1:n.*2063_*2066del
XM_024451151.1:c.*2063_*2066del XP_024306919.1:n.*2063_*2066del
XM_024451152.1:c.*2063_*2066del XP_024306920.1:n.*2063_*2066del
XM_024451153.1:c.*2063_*2066del XP_024306921.1:n.*2063_*2066del
XM_024451154.1:c.*2063_*2066del XP_024306922.1:n.*2063_*2066del
XM_024451155.1:c.*2063_*2066del XP_024306923.1:n.*2063_*2066del
XM_024451156.1:c.*2063_*2066del XP_024306924.1:n.*2063_*2066del
XM_024451157.1:c.*2063_*2066del XP_024306925.1:n.*2063_*2066del