Canonical Allele Identifier: CA1801516742
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978266_89978269delinsATTC , CM000670.2:g.89978266_89978269delinsATTC GRCh38
NC_000008.10:g.90990494_90990497delinsATTC , CM000670.1:g.90990494_90990497delinsATTC GRCh37
NC_000008.9:g.91059670_91059673delinsATTC NCBI36
NG_008860.1:g.11403_11406delinsGAAT , LRG_158:g.11403_11406delinsGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1837_1840delinsGAAT
ENST00000517337.2:c.289_292delinsGAAT ENSP00000429971.2:p.Glu97=
ENST00000523444.2:c.289_292delinsGAAT ENSP00000428252.2:p.Glu97=
ENST00000697292.1:c.535_538delinsGAAT ENSP00000513229.1:p.Glu179=
ENST00000697293.1:c.535_538delinsGAAT ENSP00000513230.1:p.Glu179=
ENST00000697294.1:c.*146_*149delinsGAAT ENSP00000513231.1:n.*146_*149delinsGAAT
ENST00000697295.1:c.37+6256_37+6259delinsGAAT ENSP00000513232.1:n.37+6256_37+6259delinsGAAT
ENST00000697296.1:c.*203_*206delinsGAAT ENSP00000513233.1:n.*203_*206delinsGAAT
ENST00000697297.1:n.2320_2323delinsGAAT
ENST00000697298.1:c.289_292delinsGAAT ENSP00000513234.1:p.Glu97=
ENST00000697299.1:c.289_292delinsGAAT ENSP00000513235.1:p.Glu97=
ENST00000697300.1:c.*139_*142delinsGAAT ENSP00000513236.1:n.*139_*142delinsGAAT
ENST00000697301.1:c.*56_*59delinsGAAT ENSP00000513237.1:n.*56_*59delinsGAAT
ENST00000697302.1:c.*56_*59delinsGAAT ENSP00000513238.1:n.*56_*59delinsGAAT
ENST00000697303.1:c.*139_*142delinsGAAT ENSP00000513239.1:n.*139_*142delinsGAAT
ENST00000697304.1:c.535_538delinsGAAT ENSP00000513240.1:p.Glu179=
ENST00000697306.1:c.480+2465_480+2468delinsGAAT ENSP00000513241.1:n.480+2465_480+2468delinsGAAT
ENST00000697307.1:c.535_538delinsGAAT ENSP00000513242.1:p.Glu179=
ENST00000697308.1:c.535_538delinsGAAT ENSP00000513243.1:p.Glu179=
ENST00000697309.1:c.535_538delinsGAAT ENSP00000513244.1:p.Glu179=
ENST00000697310.1:c.535_538delinsGAAT ENSP00000513245.1:p.Glu179=
ENST00000697311.1:c.535_538delinsGAAT ENSP00000513246.1:p.Glu179=
ENST00000697312.1:c.480+2465_480+2468delinsGAAT ENSP00000513247.1:n.480+2465_480+2468delinsGAAT
ENST00000697313.1:n.2326_2329delinsGAAT
ENST00000697314.1:n.2326_2329delinsGAAT
ENST00000697315.1:c.535_538delinsGAAT ENSP00000513248.1:p.Glu179=
ENST00000697316.1:n.656_659delinsGAAT
ENST00000697317.1:n.645_648delinsGAAT
ENST00000697318.1:n.647_650delinsGAAT
ENST00000265433.8:c.535_538delinsGAAT MANE Select ENSP00000265433.4:p.Glu179=
ENST00000265433.7:c.535_538delinsGAAT ENSP00000265433.3:p.Glu179=
ENST00000396252.6:c.*408_*411delinsGAAT ENSP00000379551.2:n.*408_*411delinsGAAT
ENST00000409330.5:c.289_292delinsGAAT ENSP00000386924.1:p.Glu97=
ENST00000517772.5:c.289_292delinsGAAT ENSP00000428717.1:p.Glu97=
ENST00000519426.5:c.320+3106_320+3109delinsGAAT ENSP00000430983.1:n.320+3106_320+3109delinsGAAT
NM_001024688.2:c.289_292delinsGAAT NP_001019859.1:p.Glu97=
NM_002485.4:c.535_538delinsGAAT , LRG_158t1:c.535_538delinsGAAT NP_002476.2:p.Glu179=
XM_011517044.1:c.511_514delinsGAAT XP_011515346.1:p.Glu171=
XM_011517045.1:c.289_292delinsGAAT XP_011515347.1:p.Glu97=
XM_011517046.1:c.535_538delinsGAAT XP_011515348.1:p.Glu179=
XR_928335.1:n.672_675delinsGAAT
XM_017013460.1:c.-345_-342delinsGAAT XP_016868949.1:n.-345_-342delinsGAAT
XM_017013462.2:c.-296+2465_-296+2468delinsGAAT XP_016868951.1:n.-296+2465_-296+2468delinsGAAT
XM_024447163.1:c.289_292delinsGAAT XP_024302931.1:p.Glu97=
XM_024447164.1:c.289_292delinsGAAT XP_024302932.1:p.Glu97=
XM_024447165.1:c.-345_-342delinsGAAT XP_024302933.1:n.-345_-342delinsGAAT
NM_002485.5:c.535_538delinsGAAT MANE Select NP_002476.2:p.Glu179=
NM_001024688.3:c.289_292delinsGAAT NP_001019859.1:p.Glu97=