Canonical Allele Identifier: CA2580079036
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89970427_89970430del , CM000670.2:g.89970427_89970430del GRCh38
NC_000008.10:g.90982655_90982658del , CM000670.1:g.90982655_90982658del GRCh37
NC_000008.9:g.91051831_91051834del NCBI36
NG_008860.1:g.19244_19247del , LRG_158:g.19244_19247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.2134_2137del
ENST00000517337.2:c.586_589del ENSP00000429971.2:p.Ser196ArgfsTer3
ENST00000523444.2:c.586_589del ENSP00000428252.2:p.Ser196ArgfsTer3
ENST00000697292.1:c.832_835del ENSP00000513229.1:p.Ser278ArgfsTer3
ENST00000697293.1:c.832_835del ENSP00000513230.1:p.Ser278ArgfsTer3
ENST00000697294.1:c.*443_*446del ENSP00000513231.1:n.*443_*446del
ENST00000697295.1:c.*141_*144del ENSP00000513232.1:n.*141_*144del
ENST00000697296.1:c.*500_*503del ENSP00000513233.1:n.*500_*503del
ENST00000697297.1:n.2617_2620del
ENST00000697298.1:c.586_589del ENSP00000513234.1:p.Ser196ArgfsTer3
ENST00000697299.1:c.586_589del ENSP00000513235.1:p.Ser196ArgfsTer3
ENST00000697300.1:c.*436_*439del ENSP00000513236.1:n.*436_*439del
ENST00000697301.1:c.*353_*356del ENSP00000513237.1:n.*353_*356del
ENST00000697302.1:c.*353_*356del ENSP00000513238.1:n.*353_*356del
ENST00000697303.1:c.*436_*439del ENSP00000513239.1:n.*436_*439del
ENST00000697304.1:c.585-5921_585-5918del ENSP00000513240.1:n.585-5921_585-5918del
ENST00000697306.1:c.480+10306_480+10309del ENSP00000513241.1:n.480+10306_480+10309del
ENST00000697307.1:c.832_835del ENSP00000513242.1:p.Ser278ArgfsTer3
ENST00000697308.1:c.832_835del ENSP00000513243.1:p.Ser278ArgfsTer3
ENST00000697309.1:c.832_835del ENSP00000513244.1:p.Ser278ArgfsTer3
ENST00000697310.1:c.832_835del ENSP00000513245.1:p.Ser278ArgfsTer3
ENST00000697311.1:c.832_835del ENSP00000513246.1:p.Ser278ArgfsTer3
ENST00000697312.1:c.*230_*233del ENSP00000513247.1:n.*230_*233del
ENST00000697313.1:n.2623_2626del
ENST00000697314.1:n.2623_2626del
ENST00000697315.1:c.832_835del ENSP00000513248.1:p.Ser278ArgfsTer3
ENST00000697316.1:n.953_956del
ENST00000697317.1:n.942_945del
ENST00000697318.1:n.944_947del
ENST00000265433.8:c.832_835del MANE Select ENSP00000265433.4:p.Ser278ArgfsTer3
ENST00000265433.7:c.832_835del ENSP00000265433.3:p.Ser278ArgfsTer3
ENST00000396252.6:c.*705_*708del ENSP00000379551.2:n.*705_*708del
ENST00000409330.5:c.586_589del ENSP00000386924.1:p.Ser196ArgfsTer3
NM_001024688.2:c.586_589del NP_001019859.1:p.Ser196ArgfsTer3
NM_002485.4:c.832_835del , LRG_158t1:c.832_835del NP_002476.2:p.Ser278ArgfsTer3
XM_011517044.1:c.808_811del XP_011515346.1:p.Ser270ArgfsTer3
XM_011517045.1:c.586_589del XP_011515347.1:p.Ser196ArgfsTer3
XM_011517046.1:c.832_835del XP_011515348.1:p.Ser278ArgfsTer3
XR_928335.1:n.969_972del
XM_017013460.1:c.-48_-45del XP_016868949.1:n.-48_-45del
XM_017013462.2:c.-48_-45del XP_016868951.1:n.-48_-45del
XM_024447163.1:c.586_589del XP_024302931.1:p.Ser196ArgfsTer3
XM_024447164.1:c.586_589del XP_024302932.1:p.Ser196ArgfsTer3
XM_024447165.1:c.-48_-45del XP_024302933.1:n.-48_-45del
NM_002485.5:c.832_835del MANE Select NP_002476.2:p.Ser278ArgfsTer3
NM_001024688.3:c.586_589del NP_001019859.1:p.Ser196ArgfsTer3