Canonical Allele Identifier: CA16044375
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 375602
ClinVar RCV Id: RCV000417079
dbSNP Id: rs1057519586

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89971196del , CM000670.2:g.89971196del GRCh38
NC_000008.10:g.90983424del , CM000670.1:g.90983424del GRCh37
NC_000008.9:g.91052600del NCBI36
NG_008860.1:g.18478del , LRG_158:g.18478del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1983del
ENST00000517337.2:c.435del ENSP00000429971.2:p.Phe145LeufsTer4
ENST00000523444.2:c.435del ENSP00000428252.2:p.Phe145LeufsTer4
ENST00000697292.1:c.681del ENSP00000513229.1:p.Phe227LeufsTer4
ENST00000697293.1:c.681del ENSP00000513230.1:p.Phe227LeufsTer4
ENST00000697294.1:c.*292del ENSP00000513231.1:n.*292del
ENST00000697295.1:c.134del ENSP00000513232.1:p.Leu45TyrfsTer9
ENST00000697296.1:c.*349del ENSP00000513233.1:n.*349del
ENST00000697297.1:n.2466del
ENST00000697298.1:c.435del ENSP00000513234.1:p.Phe145LeufsTer4
ENST00000697299.1:c.435del ENSP00000513235.1:p.Phe145LeufsTer4
ENST00000697300.1:c.*285del ENSP00000513236.1:n.*285del
ENST00000697301.1:c.*202del ENSP00000513237.1:n.*202del
ENST00000697302.1:c.*202del ENSP00000513238.1:n.*202del
ENST00000697303.1:c.*285del ENSP00000513239.1:n.*285del
ENST00000697304.1:c.585-6687del ENSP00000513240.1:n.585-6687del
ENST00000697306.1:c.480+9540del ENSP00000513241.1:n.480+9540del
ENST00000697307.1:c.681del ENSP00000513242.1:p.Phe227LeufsTer4
ENST00000697308.1:c.681del ENSP00000513243.1:p.Phe227LeufsTer4
ENST00000697309.1:c.681del ENSP00000513244.1:p.Phe227LeufsTer4
ENST00000697310.1:c.681del ENSP00000513245.1:p.Phe227LeufsTer4
ENST00000697311.1:c.681del ENSP00000513246.1:p.Phe227LeufsTer4
ENST00000697312.1:c.*79del ENSP00000513247.1:n.*79del
ENST00000697313.1:n.2472del
ENST00000697314.1:n.2472del
ENST00000697315.1:c.681del ENSP00000513248.1:p.Phe227LeufsTer4
ENST00000697316.1:n.802del
ENST00000697317.1:n.791del
ENST00000697318.1:n.793del
ENST00000265433.8:c.681del MANE Select ENSP00000265433.4:p.Phe227LeufsTer4
ENST00000265433.7:c.681del ENSP00000265433.3:p.Phe227LeufsTer4
ENST00000396252.6:c.*554del ENSP00000379551.2:n.*554del
ENST00000409330.5:c.435del ENSP00000386924.1:p.Phe145LeufsTer4
ENST00000517772.5:c.435del ENSP00000428717.1:p.Phe145LeufsTer4
ENST00000519426.5:c.417del ENSP00000430983.1:p.Phe139LeufsTer4
NM_001024688.2:c.435del NP_001019859.1:p.Phe145LeufsTer4
NM_002485.4:c.681del , LRG_158t1:c.681del NP_002476.2:p.Phe227LeufsTer4
XM_011517044.1:c.657del XP_011515346.1:p.Phe219LeufsTer4
XM_011517045.1:c.435del XP_011515347.1:p.Phe145LeufsTer4
XM_011517046.1:c.681del XP_011515348.1:p.Phe227LeufsTer4
XR_928335.1:n.818del
XM_017013460.1:c.-199del XP_016868949.1:n.-199del
XM_017013462.2:c.-199del XP_016868951.1:n.-199del
XM_024447163.1:c.435del XP_024302931.1:p.Phe145LeufsTer4
XM_024447164.1:c.435del XP_024302932.1:p.Phe145LeufsTer4
XM_024447165.1:c.-199del XP_024302933.1:n.-199del
NM_002485.5:c.681del MANE Select NP_002476.2:p.Phe227LeufsTer4
NM_001024688.3:c.435del NP_001019859.1:p.Phe145LeufsTer4