Canonical Allele Identifier: CA16041207
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370229
ClinVar RCV Id: RCV000410169
dbSNP Id: rs1057516332

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89953505dup , CM000670.2:g.89953505dup GRCh38
NC_000008.10:g.90965733dup , CM000670.1:g.90965733dup GRCh37
NC_000008.9:g.91034909dup NCBI36
NG_008860.1:g.36170dup , LRG_158:g.36170dup

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.2889dup
ENST00000517337.2:c.1341dup ENSP00000429971.2:p.Ser448IlefsTer9
ENST00000523444.2:c.1341dup ENSP00000428252.2:p.Ser448IlefsTer9
ENST00000697292.1:c.1587dup ENSP00000513229.1:p.Ser530IlefsTer9
ENST00000697293.1:c.1587dup ENSP00000513230.1:p.Ser530IlefsTer9
ENST00000697294.1:c.*1198dup ENSP00000513231.1:n.*1198dup
ENST00000697295.1:c.*896dup ENSP00000513232.1:n.*896dup
ENST00000697296.1:c.*1255dup ENSP00000513233.1:n.*1255dup
ENST00000697297.1:n.3372dup
ENST00000697298.1:c.1341dup ENSP00000513234.1:p.Ser448IlefsTer9
ENST00000697299.1:c.1341dup ENSP00000513235.1:p.Ser448IlefsTer9
ENST00000697300.1:c.*1191dup ENSP00000513236.1:n.*1191dup
ENST00000697301.1:c.*1108dup ENSP00000513237.1:n.*1108dup
ENST00000697302.1:c.*1108dup ENSP00000513238.1:n.*1108dup
ENST00000697303.1:c.*1191dup ENSP00000513239.1:n.*1191dup
ENST00000697304.1:c.1275dup ENSP00000513240.1:p.Ser426IlefsTer9
ENST00000697306.1:c.*587dup ENSP00000513241.1:n.*587dup
ENST00000697307.1:c.1587dup ENSP00000513242.1:p.Ser530IlefsTer9
ENST00000697308.1:c.1587dup ENSP00000513243.1:p.Ser530IlefsTer9
ENST00000697309.1:c.1587dup ENSP00000513244.1:p.Ser530IlefsTer9
ENST00000697310.1:c.1587dup ENSP00000513245.1:p.Ser530IlefsTer9
ENST00000697311.1:c.1587dup ENSP00000513246.1:p.Ser530IlefsTer9
ENST00000697312.1:c.*985dup ENSP00000513247.1:n.*985dup
ENST00000697313.1:n.2687+16862dup
ENST00000697314.1:n.3378dup
ENST00000697315.1:c.1587dup ENSP00000513248.1:p.Ser530IlefsTer9
ENST00000697316.1:n.1708dup
ENST00000697317.1:n.1697dup
ENST00000697318.1:n.1699dup
ENST00000265433.8:c.1587dup MANE Select ENSP00000265433.4:p.Ser530IlefsTer9
ENST00000265433.7:c.1587dup ENSP00000265433.3:p.Ser530IlefsTer9
ENST00000396252.6:c.*1460dup ENSP00000379551.2:n.*1460dup
ENST00000409330.5:c.1341dup ENSP00000386924.1:p.Ser448IlefsTer9
NM_001024688.2:c.1341dup NP_001019859.1:p.Ser448IlefsTer9
NM_002485.4:c.1587dup , LRG_158t1:c.1587dup NP_002476.2:p.Ser530IlefsTer9
XM_011517044.1:c.1563dup XP_011515346.1:p.Ser522IlefsTer9
XM_011517045.1:c.1341dup XP_011515347.1:p.Ser448IlefsTer9
XR_928335.1:n.1726dup
XM_017013460.1:c.708dup XP_016868949.1:p.Ser237IlefsTer9
XM_017013462.2:c.708dup XP_016868951.1:p.Ser237IlefsTer9
XM_024447163.1:c.1341dup XP_024302931.1:p.Ser448IlefsTer9
XM_024447164.1:c.1341dup XP_024302932.1:p.Ser448IlefsTer9
XM_024447165.1:c.708dup XP_024302933.1:p.Ser237IlefsTer9
NM_002485.5:c.1587dup MANE Select NP_002476.2:p.Ser530IlefsTer9
NM_001024688.3:c.1341dup NP_001019859.1:p.Ser448IlefsTer9