Canonical Allele Identifier: CA1801516274
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978103_89978104delinsAC , CM000670.2:g.89978103_89978104delinsAC GRCh38
NC_000008.10:g.90990331_90990332delinsAC , CM000670.1:g.90990331_90990332delinsAC GRCh37
NC_000008.9:g.91059507_91059508delinsAC NCBI36
NG_008860.1:g.11568_11569delinsGT , LRG_158:g.11568_11569delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1886+116_1886+117delinsGT
ENST00000517337.2:c.338+116_338+117delinsGT ENSP00000429971.2:n.338+116_338+117delinsGT
ENST00000523444.2:c.338+116_338+117delinsGT ENSP00000428252.2:n.338+116_338+117delinsGT
ENST00000697292.1:c.584+116_584+117delinsGT ENSP00000513229.1:n.584+116_584+117delinsGT
ENST00000697293.1:c.584+116_584+117delinsGT ENSP00000513230.1:n.584+116_584+117delinsGT
ENST00000697294.1:c.*195+116_*195+117delinsGT ENSP00000513231.1:n.*195+116_*195+117delinsGT
ENST00000697295.1:c.37+6421_37+6422delinsGT ENSP00000513232.1:n.37+6421_37+6422delinsGT
ENST00000697296.1:c.*252+116_*252+117delinsGT ENSP00000513233.1:n.*252+116_*252+117delinsGT
ENST00000697297.1:n.2369+116_2369+117delinsGT
ENST00000697298.1:c.338+116_338+117delinsGT ENSP00000513234.1:n.338+116_338+117delinsGT
ENST00000697299.1:c.338+116_338+117delinsGT ENSP00000513235.1:n.338+116_338+117delinsGT
ENST00000697300.1:c.*188+116_*188+117delinsGT ENSP00000513236.1:n.*188+116_*188+117delinsGT
ENST00000697301.1:c.*105+116_*105+117delinsGT ENSP00000513237.1:n.*105+116_*105+117delinsGT
ENST00000697302.1:c.*105+116_*105+117delinsGT ENSP00000513238.1:n.*105+116_*105+117delinsGT
ENST00000697303.1:c.*188+116_*188+117delinsGT ENSP00000513239.1:n.*188+116_*188+117delinsGT
ENST00000697304.1:c.584+116_584+117delinsGT ENSP00000513240.1:n.584+116_584+117delinsGT
ENST00000697306.1:c.480+2630_480+2631delinsGT ENSP00000513241.1:n.480+2630_480+2631delinsGT
ENST00000697307.1:c.584+116_584+117delinsGT ENSP00000513242.1:n.584+116_584+117delinsGT
ENST00000697308.1:c.584+116_584+117delinsGT ENSP00000513243.1:n.584+116_584+117delinsGT
ENST00000697309.1:c.584+116_584+117delinsGT ENSP00000513244.1:n.584+116_584+117delinsGT
ENST00000697310.1:c.584+116_584+117delinsGT ENSP00000513245.1:n.584+116_584+117delinsGT
ENST00000697311.1:c.584+116_584+117delinsGT ENSP00000513246.1:n.584+116_584+117delinsGT
ENST00000697312.1:c.480+2630_480+2631delinsGT ENSP00000513247.1:n.480+2630_480+2631delinsGT
ENST00000697313.1:n.2375+116_2375+117delinsGT
ENST00000697314.1:n.2375+116_2375+117delinsGT
ENST00000697315.1:c.584+116_584+117delinsGT ENSP00000513248.1:n.584+116_584+117delinsGT
ENST00000697316.1:n.705+116_705+117delinsGT
ENST00000697317.1:n.694+116_694+117delinsGT
ENST00000697318.1:n.696+116_696+117delinsGT
ENST00000265433.8:c.584+116_584+117delinsGT MANE Select ENSP00000265433.4:n.584+116_584+117delinsGT
ENST00000265433.7:c.584+116_584+117delinsGT ENSP00000265433.3:n.584+116_584+117delinsGT
ENST00000396252.6:c.*457+116_*457+117delinsGT ENSP00000379551.2:n.*457+116_*457+117delinsGT
ENST00000409330.5:c.338+116_338+117delinsGT ENSP00000386924.1:n.338+116_338+117delinsGT
ENST00000517772.5:c.338+116_338+117delinsGT ENSP00000428717.1:n.338+116_338+117delinsGT
ENST00000519426.5:c.320+3271_320+3272delinsGT ENSP00000430983.1:n.320+3271_320+3272delinsGT
NM_001024688.2:c.338+116_338+117delinsGT NP_001019859.1:n.338+116_338+117delinsGT
NM_002485.4:c.584+116_584+117delinsGT , LRG_158t1:c.584+116_584+117delinsGT NP_002476.2:n.584+116_584+117delinsGT
XM_011517044.1:c.560+116_560+117delinsGT XP_011515346.1:n.560+116_560+117delinsGT
XM_011517045.1:c.338+116_338+117delinsGT XP_011515347.1:n.338+116_338+117delinsGT
XM_011517046.1:c.584+116_584+117delinsGT XP_011515348.1:n.584+116_584+117delinsGT
XR_928335.1:n.721+116_721+117delinsGT
XM_017013460.1:c.-296+116_-296+117delinsGT XP_016868949.1:n.-296+116_-296+117delinsGT
XM_017013462.2:c.-296+2630_-296+2631delinsGT XP_016868951.1:n.-296+2630_-296+2631delinsGT
XM_024447163.1:c.338+116_338+117delinsGT XP_024302931.1:n.338+116_338+117delinsGT
XM_024447164.1:c.338+116_338+117delinsGT XP_024302932.1:n.338+116_338+117delinsGT
XM_024447165.1:c.-296+116_-296+117delinsGT XP_024302933.1:n.-296+116_-296+117delinsGT
NM_002485.5:c.584+116_584+117delinsGT MANE Select NP_002476.2:n.584+116_584+117delinsGT
NM_001024688.3:c.338+116_338+117delinsGT NP_001019859.1:n.338+116_338+117delinsGT