Canonical Allele Identifier: CA2579201832
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89980763del , CM000670.2:g.89980763del GRCh38
NC_000008.10:g.90992991del , CM000670.1:g.90992991del GRCh37
NC_000008.9:g.91062167del NCBI36
NG_008860.1:g.8909del , LRG_158:g.8909del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1753del
ENST00000517337.2:c.205del ENSP00000429971.2:p.Val69SerfsTer5
ENST00000523444.2:c.205del ENSP00000428252.2:p.Val69SerfsTer5
ENST00000697292.1:c.451del ENSP00000513229.1:p.Val151SerfsTer5
ENST00000697293.1:c.451del ENSP00000513230.1:p.Val151SerfsTer5
ENST00000697294.1:c.410del ENSP00000513231.1:p.Cys137PhefsTer12
ENST00000697295.1:c.37+3762del ENSP00000513232.1:n.37+3762del
ENST00000697296.1:c.*119del ENSP00000513233.1:n.*119del
ENST00000697297.1:n.2236del
ENST00000697298.1:c.205del ENSP00000513234.1:p.Val69SerfsTer5
ENST00000697299.1:c.205del ENSP00000513235.1:p.Val69SerfsTer5
ENST00000697300.1:c.205del ENSP00000513236.1:p.Val69SerfsTer5
ENST00000697301.1:c.164del ENSP00000513237.1:p.Cys55PhefsTer?
ENST00000697302.1:c.410del ENSP00000513238.1:p.Cys137PhefsTer?
ENST00000697303.1:c.451del ENSP00000513239.1:p.Val151SerfsTer5
ENST00000697304.1:c.451del ENSP00000513240.1:p.Val151SerfsTer5
ENST00000697306.1:c.451del ENSP00000513241.1:p.Val151SerfsTer5
ENST00000697307.1:c.451del ENSP00000513242.1:p.Val151SerfsTer5
ENST00000697308.1:c.451del ENSP00000513243.1:p.Val151SerfsTer5
ENST00000697309.1:c.451del ENSP00000513244.1:p.Val151SerfsTer5
ENST00000697310.1:c.451del ENSP00000513245.1:p.Val151SerfsTer5
ENST00000697311.1:c.451del ENSP00000513246.1:p.Val151SerfsTer5
ENST00000697312.1:c.451del ENSP00000513247.1:p.Val151SerfsTer5
ENST00000697313.1:n.2242del
ENST00000697314.1:n.2242del
ENST00000697315.1:c.451del ENSP00000513248.1:p.Val151SerfsTer5
ENST00000697316.1:n.572del
ENST00000697317.1:n.561del
ENST00000697318.1:n.563del
ENST00000265433.8:c.451del MANE Select ENSP00000265433.4:p.Val151SerfsTer5
ENST00000265433.7:c.451del ENSP00000265433.3:p.Val151SerfsTer5
ENST00000396252.6:c.*324del ENSP00000379551.2:n.*324del
ENST00000409330.5:c.205del ENSP00000386924.1:p.Val69SerfsTer5
ENST00000517337.1:c.205del ENSP00000429971.1:p.Val69SerfsTer5
ENST00000517772.5:c.205del ENSP00000428717.1:p.Val69SerfsTer5
ENST00000519426.5:c.320+612del ENSP00000430983.1:n.320+612del
ENST00000523444.1:c.*283del ENSP00000428252.1:n.*283del
NM_001024688.2:c.205del NP_001019859.1:p.Val69SerfsTer5
NM_002485.4:c.451del , LRG_158t1:c.451del NP_002476.2:p.Val151SerfsTer5
XM_011517044.1:c.427del XP_011515346.1:p.Val143SerfsTer5
XM_011517045.1:c.205del XP_011515347.1:p.Val69SerfsTer5
XM_011517046.1:c.451del XP_011515348.1:p.Val151SerfsTer5
XR_928335.1:n.588del
XM_017013460.1:c.-519del XP_016868949.1:n.-519del
XM_017013462.2:c.-325del XP_016868951.1:n.-325del
XM_024447163.1:c.205del XP_024302931.1:p.Val69SerfsTer5
XM_024447164.1:c.205del XP_024302932.1:p.Val69SerfsTer5
XM_024447165.1:c.-519del XP_024302933.1:n.-519del
NM_002485.5:c.451del MANE Select NP_002476.2:p.Val151SerfsTer5
NM_001024688.3:c.205del NP_001019859.1:p.Val69SerfsTer5