Canonical Allele Identifier: CA2580079433
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1755526
ClinVar RCV Id: RCV002369494

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982822_89982830del , CM000670.2:g.89982822_89982830del GRCh38
NC_000008.10:g.90995050_90995058del , CM000670.1:g.90995050_90995058del GRCh37
NC_000008.9:g.91064226_91064234del NCBI36
NG_008860.1:g.6847_6855del , LRG_158:g.6847_6855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.172_180del
ENST00000517337.2:c.-229_-221del ENSP00000429971.2:n.-229_-221del
ENST00000523444.2:c.-229_-221del ENSP00000428252.2:n.-229_-221del
ENST00000697292.1:c.68_76del ENSP00000513229.1:p.Glu23_Val25del
ENST00000697293.1:c.68_76del ENSP00000513230.1:p.Glu23_Val25del
ENST00000697294.1:c.68_76del ENSP00000513231.1:p.Glu23_Val25del
ENST00000697295.1:c.37+1700_37+1708del ENSP00000513232.1:n.37+1700_37+1708del
ENST00000697296.1:c.68_76del ENSP00000513233.1:p.Glu23_Val25del
ENST00000697297.1:n.174_182del
ENST00000697298.1:c.-229_-221del ENSP00000513234.1:n.-229_-221del
ENST00000697299.1:c.-75-1302_-75-1294del ENSP00000513235.1:n.-75-1302_-75-1294del
ENST00000697300.1:c.-229_-221del ENSP00000513236.1:n.-229_-221del
ENST00000697301.1:c.-229_-221del ENSP00000513237.1:n.-229_-221del
ENST00000697302.1:c.68_76del ENSP00000513238.1:p.Glu23_Val25del
ENST00000697303.1:c.68_76del ENSP00000513239.1:p.Glu23_Val25del
ENST00000697304.1:c.68_76del ENSP00000513240.1:p.Glu23_Val25del
ENST00000697306.1:c.68_76del ENSP00000513241.1:p.Glu23_Val25del
ENST00000697307.1:c.68_76del ENSP00000513242.1:p.Glu23_Val25del
ENST00000697308.1:c.68_76del ENSP00000513243.1:p.Glu23_Val25del
ENST00000697309.1:c.68_76del ENSP00000513244.1:p.Glu23_Val25del
ENST00000697310.1:c.68_76del ENSP00000513245.1:p.Glu23_Val25del
ENST00000697311.1:c.68_76del ENSP00000513246.1:p.Glu23_Val25del
ENST00000697312.1:c.68_76del ENSP00000513247.1:p.Glu23_Val25del
ENST00000697313.1:n.180_188del
ENST00000697314.1:n.180_188del
ENST00000697315.1:c.68_76del ENSP00000513248.1:p.Glu23_Val25del
ENST00000697316.1:n.189_197del
ENST00000697317.1:n.178_186del
ENST00000697318.1:n.180_188del
ENST00000265433.8:c.68_76del MANE Select ENSP00000265433.4:p.Glu23_Val25del
ENST00000265433.7:c.68_76del ENSP00000265433.3:p.Glu23_Val25del
ENST00000396252.6:c.68_76del ENSP00000379551.2:p.Glu23_Val25del
ENST00000409330.5:c.-179_-171del ENSP00000386924.1:n.-179_-171del
ENST00000494804.1:n.172_180del
ENST00000517337.1:c.-229_-221del ENSP00000429971.1:n.-229_-221del
ENST00000519426.5:c.68_76del ENSP00000430983.1:p.Glu23_Val25del
ENST00000523444.1:c.68_76del ENSP00000428252.1:p.Glu23_Val25del
NM_001024688.2:c.-229_-221del NP_001019859.1:n.-229_-221del
NM_002485.4:c.68_76del , LRG_158t1:c.68_76del NP_002476.2:p.Glu23_Val25del
XM_011517044.1:c.44_52del XP_011515346.1:p.Glu15_Val17del
XM_011517045.1:c.-229_-221del XP_011515347.1:n.-229_-221del
XM_011517046.1:c.68_76del XP_011515348.1:p.Glu23_Val25del
XR_928335.1:n.205_213del
XM_017013460.1:c.-952_-944del XP_016868949.1:n.-952_-944del
XM_017013462.2:c.-758_-750del XP_016868951.1:n.-758_-750del
XM_024447163.1:c.-179_-171del XP_024302931.1:n.-179_-171del
XM_024447165.1:c.-902_-894del XP_024302933.1:n.-902_-894del
NM_002485.5:c.68_76del MANE Select NP_002476.2:p.Glu23_Val25del
NM_001024688.3:c.-229_-221del NP_001019859.1:n.-229_-221del