Canonical Allele Identifier: CA2580079153
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2001717
ClinVar RCV Id: RCV002832813

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978256del , CM000670.2:g.89978256del GRCh38
NC_000008.10:g.90990484del , CM000670.1:g.90990484del GRCh37
NC_000008.9:g.91059660del NCBI36
NG_008860.1:g.11416del , LRG_158:g.11416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1850del
ENST00000517337.2:c.302del ENSP00000429971.2:p.Ala101GlufsTer?
ENST00000523444.2:c.302del ENSP00000428252.2:p.Ala101GlufsTer?
ENST00000697292.1:c.548del ENSP00000513229.1:p.Ala183GlufsTer?
ENST00000697293.1:c.548del ENSP00000513230.1:p.Ala183GlufsTer?
ENST00000697294.1:c.*159del ENSP00000513231.1:n.*159del
ENST00000697295.1:c.37+6269del ENSP00000513232.1:n.37+6269del
ENST00000697296.1:c.*216del ENSP00000513233.1:n.*216del
ENST00000697297.1:n.2333del
ENST00000697298.1:c.302del ENSP00000513234.1:p.Ala101GlufsTer?
ENST00000697299.1:c.302del ENSP00000513235.1:p.Ala101GlufsTer?
ENST00000697300.1:c.*152del ENSP00000513236.1:n.*152del
ENST00000697301.1:c.*69del ENSP00000513237.1:n.*69del
ENST00000697302.1:c.*69del ENSP00000513238.1:n.*69del
ENST00000697303.1:c.*152del ENSP00000513239.1:n.*152del
ENST00000697304.1:c.548del ENSP00000513240.1:p.Ala183GlufsTer28
ENST00000697306.1:c.480+2478del ENSP00000513241.1:n.480+2478del
ENST00000697307.1:c.548del ENSP00000513242.1:p.Ala183GlufsTer?
ENST00000697308.1:c.548del ENSP00000513243.1:p.Ala183GlufsTer?
ENST00000697309.1:c.548del ENSP00000513244.1:p.Ala183GlufsTer?
ENST00000697310.1:c.548del ENSP00000513245.1:p.Ala183GlufsTer?
ENST00000697311.1:c.548del ENSP00000513246.1:p.Ala183GlufsTer?
ENST00000697312.1:c.480+2478del ENSP00000513247.1:n.480+2478del
ENST00000697313.1:n.2339del
ENST00000697314.1:n.2339del
ENST00000697315.1:c.548del ENSP00000513248.1:p.Ala183GlufsTer?
ENST00000697316.1:n.669del
ENST00000697317.1:n.658del
ENST00000697318.1:n.660del
ENST00000265433.8:c.548del MANE Select ENSP00000265433.4:p.Ala183GlufsTer?
ENST00000265433.7:c.548del ENSP00000265433.3:p.Ala183GlufsTer?
ENST00000396252.6:c.*421del ENSP00000379551.2:n.*421del
ENST00000409330.5:c.302del ENSP00000386924.1:p.Ala101GlufsTer?
ENST00000517772.5:c.302del ENSP00000428717.1:p.Ala101GlufsTer?
ENST00000519426.5:c.320+3119del ENSP00000430983.1:n.320+3119del
NM_001024688.2:c.302del NP_001019859.1:p.Ala101GlufsTer?
NM_002485.4:c.548del , LRG_158t1:c.548del NP_002476.2:p.Ala183GlufsTer?
XM_011517044.1:c.524del XP_011515346.1:p.Ala175GlufsTer?
XM_011517045.1:c.302del XP_011515347.1:p.Ala101GlufsTer?
XM_011517046.1:c.548del XP_011515348.1:p.Ala183GlufsTer?
XR_928335.1:n.685del
XM_017013460.1:c.-332del XP_016868949.1:n.-332del
XM_017013462.2:c.-296+2478del XP_016868951.1:n.-296+2478del
XM_024447163.1:c.302del XP_024302931.1:p.Ala101GlufsTer?
XM_024447164.1:c.302del XP_024302932.1:p.Ala101GlufsTer?
XM_024447165.1:c.-332del XP_024302933.1:n.-332del
NM_002485.5:c.548del MANE Select NP_002476.2:p.Ala183GlufsTer?
NM_001024688.3:c.302del NP_001019859.1:p.Ala101GlufsTer?