Canonical Allele Identifier: CA2739268843
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2799134
ClinVar RCV Id: RCV003618291

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981516_89981518del , CM000670.2:g.89981516_89981518del GRCh38
NC_000008.10:g.90993744_90993746del , CM000670.1:g.90993744_90993746del GRCh37
NC_000008.9:g.91062920_91062922del NCBI36
NG_008860.1:g.8155_8157del , LRG_158:g.8155_8157del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1480_1482del
ENST00000517337.2:c.-69_-67del ENSP00000429971.2:n.-69_-67del
ENST00000523444.2:c.-69_-67del ENSP00000428252.2:n.-69_-67del
ENST00000697292.1:c.178_180del ENSP00000513229.1:p.Thr60del
ENST00000697293.1:c.178_180del ENSP00000513230.1:p.Thr60del
ENST00000697294.1:c.178_180del ENSP00000513231.1:p.Thr60del
ENST00000697295.1:c.37+3008_37+3010del ENSP00000513232.1:n.37+3008_37+3010del
ENST00000697296.1:c.172-624_172-622del ENSP00000513233.1:n.172-624_172-622del
ENST00000697297.1:n.1482_1484del
ENST00000697298.1:c.-69_-67del ENSP00000513234.1:n.-69_-67del
ENST00000697299.1:c.-69_-67del ENSP00000513235.1:n.-69_-67del
ENST00000697300.1:c.-69_-67del ENSP00000513236.1:n.-69_-67del
ENST00000697301.1:c.-69_-67del ENSP00000513237.1:n.-69_-67del
ENST00000697302.1:c.178_180del ENSP00000513238.1:p.Thr60del
ENST00000697303.1:c.178_180del ENSP00000513239.1:p.Thr60del
ENST00000697304.1:c.178_180del ENSP00000513240.1:p.Thr60del
ENST00000697306.1:c.178_180del ENSP00000513241.1:p.Thr60del
ENST00000697307.1:c.178_180del ENSP00000513242.1:p.Thr60del
ENST00000697308.1:c.178_180del ENSP00000513243.1:p.Thr60del
ENST00000697309.1:c.178_180del ENSP00000513244.1:p.Thr60del
ENST00000697310.1:c.178_180del ENSP00000513245.1:p.Thr60del
ENST00000697311.1:c.178_180del ENSP00000513246.1:p.Thr60del
ENST00000697312.1:c.178_180del ENSP00000513247.1:p.Thr60del
ENST00000697313.1:n.1488_1490del
ENST00000697314.1:n.1488_1490del
ENST00000697315.1:c.178_180del ENSP00000513248.1:p.Thr60del
ENST00000697316.1:n.299_301del
ENST00000697317.1:n.288_290del
ENST00000697318.1:n.290_292del
ENST00000265433.8:c.178_180del MANE Select ENSP00000265433.4:p.Thr60del
ENST00000265433.7:c.178_180del ENSP00000265433.3:p.Thr60del
ENST00000396252.6:c.*51_*53del ENSP00000379551.2:n.*51_*53del
ENST00000409330.5:c.-69_-67del ENSP00000386924.1:n.-69_-67del
ENST00000517337.1:c.-69_-67del ENSP00000429971.1:n.-69_-67del
ENST00000517772.5:c.-69_-67del ENSP00000428717.1:n.-69_-67del
ENST00000519426.5:c.178_180del ENSP00000430983.1:p.Thr60del
ENST00000523444.1:c.*51_*53del ENSP00000428252.1:n.*51_*53del
NM_001024688.2:c.-69_-67del NP_001019859.1:n.-69_-67del
NM_002485.4:c.178_180del , LRG_158t1:c.178_180del NP_002476.2:p.Thr60del
XM_011517044.1:c.154_156del XP_011515346.1:p.Thr52del
XM_011517045.1:c.-69_-67del XP_011515347.1:n.-69_-67del
XM_011517046.1:c.178_180del XP_011515348.1:p.Thr60del
XR_928335.1:n.315_317del
XM_017013460.1:c.-792_-790del XP_016868949.1:n.-792_-790del
XM_017013462.2:c.-598_-596del XP_016868951.1:n.-598_-596del
XM_024447163.1:c.-69_-67del XP_024302931.1:n.-69_-67del
XM_024447164.1:c.-69_-67del XP_024302932.1:n.-69_-67del
XM_024447165.1:c.-792_-790del XP_024302933.1:n.-792_-790del
NM_002485.5:c.178_180del MANE Select NP_002476.2:p.Thr60del
NM_001024688.3:c.-69_-67del NP_001019859.1:n.-69_-67del