Canonical Allele Identifier: CA2831039533
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937063del , CM000670.2:g.89937063del GRCh38
NC_000008.10:g.90949291del , CM000670.1:g.90949291del GRCh37
NC_000008.9:g.91018467del NCBI36
NG_008860.1:g.52609del , LRG_158:g.52609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3617del
ENST00000494804.2:n.3499del
ENST00000517337.2:c.1951del ENSP00000429971.2:p.His651MetfsTer18
ENST00000523444.2:c.1951del ENSP00000428252.2:p.His651MetfsTer18
ENST00000697292.1:c.2197del ENSP00000513229.1:p.His733MetfsTer18
ENST00000697293.1:c.2248del ENSP00000513230.1:p.His750MetfsTer18
ENST00000697294.1:c.*1808del ENSP00000513231.1:n.*1808del
ENST00000697295.1:c.*1506del ENSP00000513232.1:n.*1506del
ENST00000697296.1:c.*1865del ENSP00000513233.1:n.*1865del
ENST00000697297.1:n.3982del
ENST00000697298.1:c.1951del ENSP00000513234.1:p.His651MetfsTer18
ENST00000697299.1:c.1951del ENSP00000513235.1:p.His651MetfsTer18
ENST00000697300.1:c.*1801del ENSP00000513236.1:n.*1801del
ENST00000697301.1:c.*1718del ENSP00000513237.1:n.*1718del
ENST00000697302.1:c.*1718del ENSP00000513238.1:n.*1718del
ENST00000697303.1:c.*1801del ENSP00000513239.1:n.*1801del
ENST00000697304.1:c.1885del ENSP00000513240.1:p.His629MetfsTer18
ENST00000697305.1:n.2464del
ENST00000697306.1:c.*2748del ENSP00000513241.1:n.*2748del
ENST00000697307.1:c.1972del ENSP00000513242.1:p.His658MetfsTer18
ENST00000697308.1:c.2128del ENSP00000513243.1:p.His710MetfsTer18
ENST00000697309.1:c.2185-1451del ENSP00000513244.1:n.2185-1451del
ENST00000697310.1:c.2197del ENSP00000513245.1:p.His733MetfsTer18
ENST00000697311.1:c.*462del ENSP00000513246.1:n.*462del
ENST00000697312.1:c.*1650del ENSP00000513247.1:n.*1650del
ENST00000697313.1:n.2688-1451del
ENST00000697314.1:n.3637-1451del
ENST00000697315.1:c.*101del ENSP00000513248.1:n.*101del
ENST00000697316.1:n.2318del
ENST00000265433.8:c.2197del MANE Select ENSP00000265433.4:p.His733MetfsTer18
ENST00000265433.7:c.2197del ENSP00000265433.3:p.His733MetfsTer18
ENST00000396252.6:c.*2070del ENSP00000379551.2:n.*2070del
ENST00000409330.5:c.1951del ENSP00000386924.1:p.His651MetfsTer18
ENST00000474821.1:n.285del
ENST00000613033.1:c.307del ENSP00000484487.1:p.His103MetfsTer18
NM_001024688.2:c.1951del NP_001019859.1:p.His651MetfsTer18
NM_002485.4:c.2197del , LRG_158t1:c.2197del NP_002476.2:p.His733MetfsTer18
XM_011517044.1:c.2173del XP_011515346.1:p.His725MetfsTer18
XM_011517045.1:c.1951del XP_011515347.1:p.His651MetfsTer18
XM_017013460.1:c.1318del XP_016868949.1:p.His440MetfsTer18
XM_017013462.2:c.1318del XP_016868951.1:p.His440MetfsTer18
XM_024447163.1:c.1951del XP_024302931.1:p.His651MetfsTer18
XM_024447164.1:c.1951del XP_024302932.1:p.His651MetfsTer18
XM_024447165.1:c.1318del XP_024302933.1:p.His440MetfsTer18
NM_002485.5:c.2197del MANE Select NP_002476.2:p.His733MetfsTer18
NM_001024688.3:c.1951del NP_001019859.1:p.His651MetfsTer18