Canonical Allele Identifier: CA16041213
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370312
ClinVar RCV Id: RCV000412330
dbSNP Id: rs1057516392

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981519dup , CM000670.2:g.89981519dup GRCh38
NC_000008.10:g.90993747dup , CM000670.1:g.90993747dup GRCh37
NC_000008.9:g.91062923dup NCBI36
NG_008860.1:g.8155dup , LRG_158:g.8155dup

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1480dup
ENST00000517337.2:c.-69dup ENSP00000429971.2:n.-69dup
ENST00000523444.2:c.-69dup ENSP00000428252.2:n.-69dup
ENST00000697292.1:c.178dup ENSP00000513229.1:p.Thr60AsnfsTer3
ENST00000697293.1:c.178dup ENSP00000513230.1:p.Thr60AsnfsTer3
ENST00000697294.1:c.178dup ENSP00000513231.1:p.Thr60AsnfsTer3
ENST00000697295.1:c.37+3008dup ENSP00000513232.1:n.37+3008dup
ENST00000697296.1:c.172-624dup ENSP00000513233.1:n.172-624dup
ENST00000697297.1:n.1482dup
ENST00000697298.1:c.-69dup ENSP00000513234.1:n.-69dup
ENST00000697299.1:c.-69dup ENSP00000513235.1:n.-69dup
ENST00000697300.1:c.-69dup ENSP00000513236.1:n.-69dup
ENST00000697301.1:c.-69dup ENSP00000513237.1:n.-69dup
ENST00000697302.1:c.178dup ENSP00000513238.1:p.Thr60AsnfsTer3
ENST00000697303.1:c.178dup ENSP00000513239.1:p.Thr60AsnfsTer3
ENST00000697304.1:c.178dup ENSP00000513240.1:p.Thr60AsnfsTer3
ENST00000697306.1:c.178dup ENSP00000513241.1:p.Thr60AsnfsTer3
ENST00000697307.1:c.178dup ENSP00000513242.1:p.Thr60AsnfsTer3
ENST00000697308.1:c.178dup ENSP00000513243.1:p.Thr60AsnfsTer3
ENST00000697309.1:c.178dup ENSP00000513244.1:p.Thr60AsnfsTer3
ENST00000697310.1:c.178dup ENSP00000513245.1:p.Thr60AsnfsTer3
ENST00000697311.1:c.178dup ENSP00000513246.1:p.Thr60AsnfsTer3
ENST00000697312.1:c.178dup ENSP00000513247.1:p.Thr60AsnfsTer3
ENST00000697313.1:n.1488dup
ENST00000697314.1:n.1488dup
ENST00000697315.1:c.178dup ENSP00000513248.1:p.Thr60AsnfsTer3
ENST00000697316.1:n.299dup
ENST00000697317.1:n.288dup
ENST00000697318.1:n.290dup
ENST00000265433.8:c.178dup MANE Select ENSP00000265433.4:p.Thr60AsnfsTer3
ENST00000265433.7:c.178dup ENSP00000265433.3:p.Thr60AsnfsTer3
ENST00000396252.6:c.*51dup ENSP00000379551.2:n.*51dup
ENST00000409330.5:c.-69dup ENSP00000386924.1:n.-69dup
ENST00000517337.1:c.-69dup ENSP00000429971.1:n.-69dup
ENST00000517772.5:c.-69dup ENSP00000428717.1:n.-69dup
ENST00000519426.5:c.178dup ENSP00000430983.1:p.Thr60AsnfsTer3
ENST00000523444.1:c.*51dup ENSP00000428252.1:n.*51dup
NM_001024688.2:c.-69dup NP_001019859.1:n.-69dup
NM_002485.4:c.178dup , LRG_158t1:c.178dup NP_002476.2:p.Thr60AsnfsTer3
XM_011517044.1:c.154dup XP_011515346.1:p.Thr52AsnfsTer3
XM_011517045.1:c.-69dup XP_011515347.1:n.-69dup
XM_011517046.1:c.178dup XP_011515348.1:p.Thr60AsnfsTer3
XR_928335.1:n.315dup
XM_017013460.1:c.-792dup XP_016868949.1:n.-792dup
XM_017013462.2:c.-598dup XP_016868951.1:n.-598dup
XM_024447163.1:c.-69dup XP_024302931.1:n.-69dup
XM_024447164.1:c.-69dup XP_024302932.1:n.-69dup
XM_024447165.1:c.-792dup XP_024302933.1:n.-792dup
NM_002485.5:c.178dup MANE Select NP_002476.2:p.Thr60AsnfsTer3
NM_001024688.3:c.-69dup NP_001019859.1:n.-69dup