Canonical Allele Identifier: CA287949
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 127878
dbSNP Id: rs587780100

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89971176_89971179del , CM000670.2:g.89971176_89971179del GRCh38
NC_000008.10:g.90983404_90983407del , CM000670.1:g.90983404_90983407del GRCh37
NC_000008.9:g.91052580_91052583del NCBI36
NG_008860.1:g.18495_18498del , LRG_158:g.18495_18498del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.2000_2003del
ENST00000517337.2:c.452_455del ENSP00000429971.2:p.Lys151SerfsTer5
ENST00000523444.2:c.452_455del ENSP00000428252.2:p.Lys151SerfsTer5
ENST00000697292.1:c.698_701del ENSP00000513229.1:p.Lys233SerfsTer5
ENST00000697293.1:c.698_701del ENSP00000513230.1:p.Lys233SerfsTer5
ENST00000697294.1:c.*309_*312del ENSP00000513231.1:n.*309_*312del
ENST00000697295.1:c.*7_*10del ENSP00000513232.1:n.*7_*10del
ENST00000697296.1:c.*366_*369del ENSP00000513233.1:n.*366_*369del
ENST00000697297.1:n.2483_2486del
ENST00000697298.1:c.452_455del ENSP00000513234.1:p.Lys151SerfsTer5
ENST00000697299.1:c.452_455del ENSP00000513235.1:p.Lys151SerfsTer5
ENST00000697300.1:c.*302_*305del ENSP00000513236.1:n.*302_*305del
ENST00000697301.1:c.*219_*222del ENSP00000513237.1:n.*219_*222del
ENST00000697302.1:c.*219_*222del ENSP00000513238.1:n.*219_*222del
ENST00000697303.1:c.*302_*305del ENSP00000513239.1:n.*302_*305del
ENST00000697304.1:c.585-6670_585-6667del ENSP00000513240.1:n.585-6670_585-6667del
ENST00000697306.1:c.480+9557_480+9560del ENSP00000513241.1:n.480+9557_480+9560del
ENST00000697307.1:c.698_701del ENSP00000513242.1:p.Lys233SerfsTer5
ENST00000697308.1:c.698_701del ENSP00000513243.1:p.Lys233SerfsTer5
ENST00000697309.1:c.698_701del ENSP00000513244.1:p.Lys233SerfsTer5
ENST00000697310.1:c.698_701del ENSP00000513245.1:p.Lys233SerfsTer5
ENST00000697311.1:c.698_701del ENSP00000513246.1:p.Lys233SerfsTer5
ENST00000697312.1:c.*96_*99del ENSP00000513247.1:n.*96_*99del
ENST00000697313.1:n.2489_2492del
ENST00000697314.1:n.2489_2492del
ENST00000697315.1:c.698_701del ENSP00000513248.1:p.Lys233SerfsTer5
ENST00000697316.1:n.819_822del
ENST00000697317.1:n.808_811del
ENST00000697318.1:n.810_813del
ENST00000265433.8:c.698_701del MANE Select ENSP00000265433.4:p.Lys233SerfsTer5
ENST00000265433.7:c.698_701del ENSP00000265433.3:p.Lys233SerfsTer5
ENST00000396252.6:c.*571_*574del ENSP00000379551.2:n.*571_*574del
ENST00000409330.5:c.452_455del ENSP00000386924.1:p.Lys151SerfsTer5
ENST00000517772.5:c.452_455del ENSP00000428717.1:p.Lys151SerfsTer5
ENST00000519426.5:c.434_437del ENSP00000430983.1:p.Lys145SerfsTer5
NM_001024688.2:c.452_455del NP_001019859.1:p.Lys151SerfsTer5
NM_002485.4:c.698_701del , LRG_158t1:c.698_701del NP_002476.2:p.Lys233SerfsTer5
XM_011517044.1:c.674_677del XP_011515346.1:p.Lys225SerfsTer5
XM_011517045.1:c.452_455del XP_011515347.1:p.Lys151SerfsTer5
XM_011517046.1:c.698_701del XP_011515348.1:p.Lys233SerfsTer5
XR_928335.1:n.835_838del
XM_017013460.1:c.-182_-179del XP_016868949.1:n.-182_-179del
XM_017013462.2:c.-182_-179del XP_016868951.1:n.-182_-179del
XM_024447163.1:c.452_455del XP_024302931.1:p.Lys151SerfsTer5
XM_024447164.1:c.452_455del XP_024302932.1:p.Lys151SerfsTer5
XM_024447165.1:c.-182_-179del XP_024302933.1:n.-182_-179del
NM_002485.5:c.698_701del MANE Select NP_002476.2:p.Lys233SerfsTer5
NM_001024688.3:c.452_455del NP_001019859.1:p.Lys151SerfsTer5