Canonical Allele Identifier: CA2687854203
Gene: NBN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947835del , CM000670.2:g.89947835del GRCh38
NC_000008.10:g.90960063del , CM000670.1:g.90960063del GRCh37
NC_000008.9:g.91029239del NCBI36
NG_008860.1:g.41839del , LRG_158:g.41839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3207del
ENST00000517337.2:c.1659del ENSP00000429971.2:p.Glu554LysfsTer21
ENST00000523444.2:c.1659del ENSP00000428252.2:p.Glu554LysfsTer21
ENST00000697292.1:c.1905del ENSP00000513229.1:p.Glu636LysfsTer21
ENST00000697293.1:c.1905del ENSP00000513230.1:p.Glu636LysfsTer21
ENST00000697294.1:c.*1516del ENSP00000513231.1:n.*1516del
ENST00000697295.1:c.*1214del ENSP00000513232.1:n.*1214del
ENST00000697296.1:c.*1573del ENSP00000513233.1:n.*1573del
ENST00000697297.1:n.3690del
ENST00000697298.1:c.1659del ENSP00000513234.1:p.Glu554LysfsTer21
ENST00000697299.1:c.1659del ENSP00000513235.1:p.Glu554LysfsTer21
ENST00000697300.1:c.*1509del ENSP00000513236.1:n.*1509del
ENST00000697301.1:c.*1426del ENSP00000513237.1:n.*1426del
ENST00000697302.1:c.*1426del ENSP00000513238.1:n.*1426del
ENST00000697303.1:c.*1509del ENSP00000513239.1:n.*1509del
ENST00000697304.1:c.1593del ENSP00000513240.1:p.Glu532LysfsTer21
ENST00000697306.1:c.*928del ENSP00000513241.1:n.*928del
ENST00000697307.1:c.1846-4467del ENSP00000513242.1:n.1846-4467del
ENST00000697308.1:c.1846-1538del ENSP00000513243.1:n.1846-1538del
ENST00000697309.1:c.1905del ENSP00000513244.1:p.Glu636LysfsTer21
ENST00000697310.1:c.1905del ENSP00000513245.1:p.Glu636LysfsTer21
ENST00000697311.1:c.1905del ENSP00000513246.1:p.Glu636LysfsTer21
ENST00000697312.1:c.*1303del ENSP00000513247.1:n.*1303del
ENST00000697313.1:n.2688-12221del
ENST00000697314.1:n.3636+5411del
ENST00000697315.1:c.1905del ENSP00000513248.1:p.Glu636LysfsTer21
ENST00000697316.1:n.2026del
ENST00000697317.1:n.2005+10del
ENST00000265433.8:c.1905del MANE Select ENSP00000265433.4:p.Glu636LysfsTer21
ENST00000265433.7:c.1905del ENSP00000265433.3:p.Glu636LysfsTer21
ENST00000396252.6:c.*1778del ENSP00000379551.2:n.*1778del
ENST00000409330.5:c.1659del ENSP00000386924.1:p.Glu554LysfsTer21
ENST00000613033.1:c.171del ENSP00000484487.1:p.Glu58LysfsTer21
NM_001024688.2:c.1659del NP_001019859.1:p.Glu554LysfsTer21
NM_002485.4:c.1905del , LRG_158t1:c.1905del NP_002476.2:p.Glu636LysfsTer21
XM_011517044.1:c.1881del XP_011515346.1:p.Glu628LysfsTer21
XM_011517045.1:c.1659del XP_011515347.1:p.Glu554LysfsTer21
XR_928335.1:n.2044del
XM_017013460.1:c.1026del XP_016868949.1:p.Glu343LysfsTer21
XM_017013462.2:c.1026del XP_016868951.1:p.Glu343LysfsTer21
XM_024447163.1:c.1659del XP_024302931.1:p.Glu554LysfsTer21
XM_024447164.1:c.1659del XP_024302932.1:p.Glu554LysfsTer21
XM_024447165.1:c.1026del XP_024302933.1:p.Glu343LysfsTer21
NM_002485.5:c.1905del MANE Select NP_002476.2:p.Glu636LysfsTer21
NM_001024688.3:c.1659del NP_001019859.1:p.Glu554LysfsTer21