Canonical Allele Identifier: CA2967657353
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89953434_89953436del , CM000670.2:g.89953434_89953436del GRCh38
NC_000008.10:g.90965662_90965664del , CM000670.1:g.90965662_90965664del GRCh37
NC_000008.9:g.91034838_91034840del NCBI36
NG_008860.1:g.36236_36238del , LRG_158:g.36236_36238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.2955_2957del
ENST00000517337.2:c.1407_1409del ENSP00000429971.2:p.Glu470del
ENST00000523444.2:c.1407_1409del ENSP00000428252.2:p.Glu470del
ENST00000697292.1:c.1653_1655del ENSP00000513229.1:p.Glu552del
ENST00000697293.1:c.1653_1655del ENSP00000513230.1:p.Glu552del
ENST00000697294.1:c.*1264_*1266del ENSP00000513231.1:n.*1264_*1266del
ENST00000697295.1:c.*962_*964del ENSP00000513232.1:n.*962_*964del
ENST00000697296.1:c.*1321_*1323del ENSP00000513233.1:n.*1321_*1323del
ENST00000697297.1:n.3438_3440del
ENST00000697298.1:c.1407_1409del ENSP00000513234.1:p.Glu470del
ENST00000697299.1:c.1407_1409del ENSP00000513235.1:p.Glu470del
ENST00000697300.1:c.*1257_*1259del ENSP00000513236.1:n.*1257_*1259del
ENST00000697301.1:c.*1174_*1176del ENSP00000513237.1:n.*1174_*1176del
ENST00000697302.1:c.*1174_*1176del ENSP00000513238.1:n.*1174_*1176del
ENST00000697303.1:c.*1257_*1259del ENSP00000513239.1:n.*1257_*1259del
ENST00000697304.1:c.1341_1343del ENSP00000513240.1:p.Glu448del
ENST00000697306.1:c.*653_*655del ENSP00000513241.1:n.*653_*655del
ENST00000697307.1:c.1653_1655del ENSP00000513242.1:p.Glu552del
ENST00000697308.1:c.1653_1655del ENSP00000513243.1:p.Glu552del
ENST00000697309.1:c.1653_1655del ENSP00000513244.1:p.Glu552del
ENST00000697310.1:c.1653_1655del ENSP00000513245.1:p.Glu552del
ENST00000697311.1:c.1653_1655del ENSP00000513246.1:p.Glu552del
ENST00000697312.1:c.*1051_*1053del ENSP00000513247.1:n.*1051_*1053del
ENST00000697313.1:n.2687+16928_2687+16930del
ENST00000697314.1:n.3444_3446del
ENST00000697315.1:c.1653_1655del ENSP00000513248.1:p.Glu552del
ENST00000697316.1:n.1774_1776del
ENST00000697317.1:n.1763_1765del
ENST00000697318.1:n.1765_1767del
ENST00000265433.8:c.1653_1655del MANE Select ENSP00000265433.4:p.Glu552del
ENST00000265433.7:c.1653_1655del ENSP00000265433.3:p.Glu552del
ENST00000396252.6:c.*1526_*1528del ENSP00000379551.2:n.*1526_*1528del
ENST00000409330.5:c.1407_1409del ENSP00000386924.1:p.Glu470del
NM_001024688.2:c.1407_1409del NP_001019859.1:p.Glu470del
NM_002485.4:c.1653_1655del , LRG_158t1:c.1653_1655del NP_002476.2:p.Glu552del
XM_011517044.1:c.1629_1631del XP_011515346.1:p.Glu544del
XM_011517045.1:c.1407_1409del XP_011515347.1:p.Glu470del
XR_928335.1:n.1792_1794del
XM_017013460.1:c.774_776del XP_016868949.1:p.Glu259del
XM_017013462.2:c.774_776del XP_016868951.1:p.Glu259del
XM_024447163.1:c.1407_1409del XP_024302931.1:p.Glu470del
XM_024447164.1:c.1407_1409del XP_024302932.1:p.Glu470del
XM_024447165.1:c.774_776del XP_024302933.1:p.Glu259del
NM_002485.5:c.1653_1655del MANE Select NP_002476.2:p.Glu552del
NM_001024688.3:c.1407_1409del NP_001019859.1:p.Glu470del