Canonical Allele Identifier: CA658657794
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 483979
ClinVar RCV Id: RCV000561968
dbSNP Id: rs1554568419

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981515_89981518delinsC , CM000670.2:g.89981515_89981518delinsC GRCh38
NC_000008.10:g.90993743_90993746delinsC , CM000670.1:g.90993743_90993746delinsC GRCh37
NC_000008.9:g.91062919_91062922delinsC NCBI36
NG_008860.1:g.8154_8157delinsG , LRG_158:g.8154_8157delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1479_1482delinsG
ENST00000517337.2:c.-70_-67delinsG ENSP00000429971.2:n.-70_-67delinsG
ENST00000523444.2:c.-70_-67delinsG ENSP00000428252.2:n.-70_-67delinsG
ENST00000697292.1:c.177_180delinsG ENSP00000513229.1:p.Thr60del
ENST00000697293.1:c.177_180delinsG ENSP00000513230.1:p.Thr60del
ENST00000697294.1:c.177_180delinsG ENSP00000513231.1:p.Thr60del
ENST00000697295.1:c.37+3007_37+3010delinsG ENSP00000513232.1:n.37+3007_37+3010delins...
ENST00000697296.1:c.172-625_172-622delinsG ENSP00000513233.1:n.172-625_172-622delins...
ENST00000697297.1:n.1481_1484delinsG
ENST00000697298.1:c.-70_-67delinsG ENSP00000513234.1:n.-70_-67delinsG
ENST00000697299.1:c.-70_-67delinsG ENSP00000513235.1:n.-70_-67delinsG
ENST00000697300.1:c.-70_-67delinsG ENSP00000513236.1:n.-70_-67delinsG
ENST00000697301.1:c.-70_-67delinsG ENSP00000513237.1:n.-70_-67delinsG
ENST00000697302.1:c.177_180delinsG ENSP00000513238.1:p.Thr60del
ENST00000697303.1:c.177_180delinsG ENSP00000513239.1:p.Thr60del
ENST00000697304.1:c.177_180delinsG ENSP00000513240.1:p.Thr60del
ENST00000697306.1:c.177_180delinsG ENSP00000513241.1:p.Thr60del
ENST00000697307.1:c.177_180delinsG ENSP00000513242.1:p.Thr60del
ENST00000697308.1:c.177_180delinsG ENSP00000513243.1:p.Thr60del
ENST00000697309.1:c.177_180delinsG ENSP00000513244.1:p.Thr60del
ENST00000697310.1:c.177_180delinsG ENSP00000513245.1:p.Thr60del
ENST00000697311.1:c.177_180delinsG ENSP00000513246.1:p.Thr60del
ENST00000697312.1:c.177_180delinsG ENSP00000513247.1:p.Thr60del
ENST00000697313.1:n.1487_1490delinsG
ENST00000697314.1:n.1487_1490delinsG
ENST00000697315.1:c.177_180delinsG ENSP00000513248.1:p.Thr60del
ENST00000697316.1:n.298_301delinsG
ENST00000697317.1:n.287_290delinsG
ENST00000697318.1:n.289_292delinsG
ENST00000265433.8:c.177_180delinsG MANE Select ENSP00000265433.4:p.Thr60del
ENST00000265433.7:c.177_180delinsG ENSP00000265433.3:p.Thr60del
ENST00000396252.6:c.*50_*53delinsG ENSP00000379551.2:n.*50_*53delinsG
ENST00000409330.5:c.-70_-67delinsG ENSP00000386924.1:n.-70_-67delinsG
ENST00000517337.1:c.-70_-67delinsG ENSP00000429971.1:n.-70_-67delinsG
ENST00000517772.5:c.-70_-67delinsG ENSP00000428717.1:n.-70_-67delinsG
ENST00000519426.5:c.177_180delinsG ENSP00000430983.1:p.Thr60del
ENST00000523444.1:c.*50_*53delinsG ENSP00000428252.1:n.*50_*53delinsG
NM_001024688.2:c.-70_-67delinsG NP_001019859.1:n.-70_-67delinsG
NM_002485.4:c.177_180delinsG , LRG_158t1:c.177_180delinsG NP_002476.2:p.Thr60del
XM_011517044.1:c.153_156delinsG XP_011515346.1:p.Thr52del
XM_011517045.1:c.-70_-67delinsG XP_011515347.1:n.-70_-67delinsG
XM_011517046.1:c.177_180delinsG XP_011515348.1:p.Thr60del
XR_928335.1:n.314_317delinsG
XM_017013460.1:c.-793_-790delinsG XP_016868949.1:n.-793_-790delinsG
XM_017013462.2:c.-599_-596delinsG XP_016868951.1:n.-599_-596delinsG
XM_024447163.1:c.-70_-67delinsG XP_024302931.1:n.-70_-67delinsG
XM_024447164.1:c.-70_-67delinsG XP_024302932.1:n.-70_-67delinsG
XM_024447165.1:c.-793_-790delinsG XP_024302933.1:n.-793_-790delinsG
NM_002485.5:c.177_180delinsG MANE Select NP_002476.2:p.Thr60del
NM_001024688.3:c.-70_-67delinsG NP_001019859.1:n.-70_-67delinsG