Canonical Allele Identifier: CA10578808
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 232165
ClinVar RCV Id: RCV003475023
dbSNP Id: rs876659592

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981507del , CM000670.2:g.89981507del GRCh38
NC_000008.10:g.90993735del , CM000670.1:g.90993735del GRCh37
NC_000008.9:g.91062911del NCBI36
NG_008860.1:g.8165del , LRG_158:g.8165del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1490del
ENST00000517337.2:c.-59del ENSP00000429971.2:n.-59del
ENST00000523444.2:c.-59del ENSP00000428252.2:n.-59del
ENST00000697292.1:c.188del ENSP00000513229.1:p.Ile63ThrfsTer4
ENST00000697293.1:c.188del ENSP00000513230.1:p.Ile63ThrfsTer4
ENST00000697294.1:c.188del ENSP00000513231.1:p.Ile63ThrfsTer4
ENST00000697295.1:c.37+3018del ENSP00000513232.1:n.37+3018del
ENST00000697296.1:c.172-614del ENSP00000513233.1:n.172-614del
ENST00000697297.1:n.1492del
ENST00000697298.1:c.-59del ENSP00000513234.1:n.-59del
ENST00000697299.1:c.-59del ENSP00000513235.1:n.-59del
ENST00000697300.1:c.-59del ENSP00000513236.1:n.-59del
ENST00000697301.1:c.-59del ENSP00000513237.1:n.-59del
ENST00000697302.1:c.188del ENSP00000513238.1:p.Ile63ThrfsTer4
ENST00000697303.1:c.188del ENSP00000513239.1:p.Ile63ThrfsTer4
ENST00000697304.1:c.188del ENSP00000513240.1:p.Ile63ThrfsTer4
ENST00000697306.1:c.188del ENSP00000513241.1:p.Ile63ThrfsTer4
ENST00000697307.1:c.188del ENSP00000513242.1:p.Ile63ThrfsTer4
ENST00000697308.1:c.188del ENSP00000513243.1:p.Ile63ThrfsTer4
ENST00000697309.1:c.188del ENSP00000513244.1:p.Ile63ThrfsTer4
ENST00000697310.1:c.188del ENSP00000513245.1:p.Ile63ThrfsTer4
ENST00000697311.1:c.188del ENSP00000513246.1:p.Ile63ThrfsTer4
ENST00000697312.1:c.188del ENSP00000513247.1:p.Ile63ThrfsTer4
ENST00000697313.1:n.1498del
ENST00000697314.1:n.1498del
ENST00000697315.1:c.188del ENSP00000513248.1:p.Ile63ThrfsTer4
ENST00000697316.1:n.309del
ENST00000697317.1:n.298del
ENST00000697318.1:n.300del
ENST00000265433.8:c.188del MANE Select ENSP00000265433.4:p.Ile63ThrfsTer4
ENST00000265433.7:c.188del ENSP00000265433.3:p.Ile63ThrfsTer4
ENST00000396252.6:c.*61del ENSP00000379551.2:n.*61del
ENST00000409330.5:c.-59del ENSP00000386924.1:n.-59del
ENST00000517337.1:c.-59del ENSP00000429971.1:n.-59del
ENST00000517772.5:c.-59del ENSP00000428717.1:n.-59del
ENST00000519426.5:c.188del ENSP00000430983.1:p.Ile63ThrfsTer4
ENST00000523444.1:c.*61del ENSP00000428252.1:n.*61del
NM_001024688.2:c.-59del NP_001019859.1:n.-59del
NM_002485.4:c.188del , LRG_158t1:c.188del NP_002476.2:p.Ile63ThrfsTer4
XM_011517044.1:c.164del XP_011515346.1:p.Ile55ThrfsTer4
XM_011517045.1:c.-59del XP_011515347.1:n.-59del
XM_011517046.1:c.188del XP_011515348.1:p.Ile63ThrfsTer4
XR_928335.1:n.325del
XM_017013460.1:c.-782del XP_016868949.1:n.-782del
XM_017013462.2:c.-588del XP_016868951.1:n.-588del
XM_024447163.1:c.-59del XP_024302931.1:n.-59del
XM_024447164.1:c.-59del XP_024302932.1:n.-59del
XM_024447165.1:c.-782del XP_024302933.1:n.-782del
NM_002485.5:c.188del MANE Select NP_002476.2:p.Ile63ThrfsTer4
NM_001024688.3:c.-59del NP_001019859.1:n.-59del