Canonical Allele Identifier: CA2611650819
Gene: SIRT3 HGNC NCBI

Linked Data

gnomAD v4: 11-219029-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.219033del , CM000673.2:g.219033del GRCh38
NC_000011.9:g.219033del , CM000673.1:g.219033del GRCh37
NC_000011.8:g.209033del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382743.9:c.981del MANE Select ENSP00000372191.4:p.Phe327LeufsTer4
ENST00000382743.8:c.981del ENSP00000372191.4:p.Phe327LeufsTer4
ENST00000524564.5:c.789del ENSP00000432937.1:p.Phe263LeufsTer4
ENST00000525319.5:c.738del ENSP00000435464.1:p.Phe246LeufsTer4
ENST00000529382.5:c.555del ENSP00000437216.1:p.Phe185LeufsTer4
ENST00000529937.1:c.*1387del ENSP00000434747.1:n.*1387del
ENST00000532837.5:c.*694del ENSP00000433899.1:n.*694del
ENST00000532956.5:c.819del ENSP00000433077.1:p.Phe273LeufsTer4
NM_001017524.2:c.555del NP_001017524.1:p.Phe185LeufsTer4
NM_012239.5:c.981del NP_036371.1:p.Phe327LeufsTer4
XM_005252835.1:c.981del XP_005252892.1:p.Phe327LeufsTer4
XM_011519956.1:c.555del XP_011518258.1:p.Phe185LeufsTer4
XM_011519957.1:c.555del XP_011518259.1:p.Phe185LeufsTer4
XM_011519956.2:c.555del XP_011518258.1:p.Phe185LeufsTer4
XM_011519957.2:c.555del XP_011518259.1:p.Phe185LeufsTer4
XM_017017428.1:c.555del XP_016872917.1:p.Phe185LeufsTer4
XM_017017429.1:c.555del XP_016872918.1:p.Phe185LeufsTer4
XM_017017430.2:c.555del XP_016872919.1:p.Phe185LeufsTer4
XM_017017431.1:c.555del XP_016872920.1:p.Phe185LeufsTer4
XM_024448410.1:c.555del XP_024304178.1:p.Phe185LeufsTer4
XR_001747817.1:n.1104del
NM_012239.6:c.981del MANE Select NP_036371.1:p.Phe327LeufsTer4
NM_001370310.1:c.981del NP_001357239.1:p.Phe327LeufsTer4
NM_001370312.1:c.789del NP_001357241.1:p.Phe263LeufsTer4
NM_001370314.1:c.819del NP_001357243.1:p.Phe273LeufsTer4
NM_001370315.1:c.738del NP_001357244.1:p.Phe246LeufsTer4
NM_001370316.1:c.309del NP_001357245.1:p.Phe103LeufsTer4
NM_001370317.1:c.165del NP_001357246.1:p.Phe55LeufsTer4
NM_001370318.1:c.555del NP_001357247.1:p.Phe185LeufsTer4
NM_001370319.1:c.555del NP_001357248.1:p.Phe185LeufsTer4
NM_001370320.1:c.555del NP_001357249.1:p.Phe185LeufsTer4
NM_001370321.1:c.555del NP_001357250.1:p.Phe185LeufsTer4
NM_001370322.1:c.555del NP_001357251.1:p.Phe185LeufsTer4
NM_001370323.1:c.555del NP_001357252.1:p.Phe185LeufsTer4
NM_001370324.1:c.544-2312del NP_001357253.1:n.544-2312del
NM_001370325.1:c.544-2312del NP_001357254.1:n.544-2312del
NR_163386.1:n.1170del
NR_163387.1:n.1057del
NR_163388.1:n.1105del
NR_163389.1:n.1425del
NR_163390.1:n.1105del
NR_163391.1:n.1312del
NR_163392.1:n.1514del
NR_163393.1:n.1579del
NR_163394.1:n.1003del
NR_163395.1:n.1258del
NR_163396.1:n.1084del
NR_163397.1:n.890del
NR_163398.1:n.1003del
NR_163399.1:n.1404del
NR_163400.1:n.938del
NR_163401.1:n.1493del
NR_163402.1:n.1554del
NM_001017524.3:c.555del NP_001017524.1:p.Phe185LeufsTer4