Canonical Allele Identifier: CA16041204
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 370663
dbSNP Id: rs1057516668

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946237del , CM000670.2:g.89946237del GRCh38
NC_000008.10:g.90958465del , CM000670.1:g.90958465del GRCh37
NC_000008.9:g.91027641del NCBI36
NG_008860.1:g.43436del , LRG_158:g.43436del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3276del
ENST00000517337.2:c.1728del ENSP00000429971.2:p.Glu576AspfsTer6
ENST00000523444.2:c.1728del ENSP00000428252.2:p.Glu576AspfsTer6
ENST00000697292.1:c.1974del ENSP00000513229.1:p.Glu658AspfsTer6
ENST00000697293.1:c.1974del ENSP00000513230.1:p.Glu658AspfsTer6
ENST00000697294.1:c.*1585del ENSP00000513231.1:n.*1585del
ENST00000697295.1:c.*1283del ENSP00000513232.1:n.*1283del
ENST00000697296.1:c.*1642del ENSP00000513233.1:n.*1642del
ENST00000697297.1:n.3759del
ENST00000697298.1:c.1728del ENSP00000513234.1:p.Glu576AspfsTer6
ENST00000697299.1:c.1728del ENSP00000513235.1:p.Glu576AspfsTer6
ENST00000697300.1:c.*1578del ENSP00000513236.1:n.*1578del
ENST00000697301.1:c.*1495del ENSP00000513237.1:n.*1495del
ENST00000697302.1:c.*1495del ENSP00000513238.1:n.*1495del
ENST00000697303.1:c.*1578del ENSP00000513239.1:n.*1578del
ENST00000697304.1:c.1662del ENSP00000513240.1:p.Glu554AspfsTer6
ENST00000697306.1:c.*2525del ENSP00000513241.1:n.*2525del
ENST00000697307.1:c.1846-2870del ENSP00000513242.1:n.1846-2870del
ENST00000697308.1:c.1905del ENSP00000513243.1:p.Glu635AspfsTer6
ENST00000697309.1:c.1974del ENSP00000513244.1:p.Glu658AspfsTer6
ENST00000697310.1:c.1974del ENSP00000513245.1:p.Glu658AspfsTer6
ENST00000697311.1:c.1974del ENSP00000513246.1:p.Glu658AspfsTer6
ENST00000697312.1:c.*1372del ENSP00000513247.1:n.*1372del
ENST00000697313.1:n.2688-10624del
ENST00000697314.1:n.3636+7008del
ENST00000697315.1:c.1974del ENSP00000513248.1:p.Glu658AspfsTer6
ENST00000697316.1:n.2095del
ENST00000697317.1:n.2065del
ENST00000265433.8:c.1974del MANE Select ENSP00000265433.4:p.Glu658AspfsTer6
ENST00000265433.7:c.1974del ENSP00000265433.3:p.Glu658AspfsTer6
ENST00000396252.6:c.*1847del ENSP00000379551.2:n.*1847del
ENST00000409330.5:c.1728del ENSP00000386924.1:p.Glu576AspfsTer6
ENST00000520325.1:n.390del
ENST00000613033.1:c.180+1588del ENSP00000484487.1:n.180+1588del
NM_001024688.2:c.1728del NP_001019859.1:p.Glu576AspfsTer6
NM_002485.4:c.1974del , LRG_158t1:c.1974del NP_002476.2:p.Glu658AspfsTer6
XM_011517044.1:c.1950del XP_011515346.1:p.Glu650AspfsTer6
XM_011517045.1:c.1728del XP_011515347.1:p.Glu576AspfsTer6
XM_017013460.1:c.1095del XP_016868949.1:p.Glu365AspfsTer6
XM_017013462.2:c.1095del XP_016868951.1:p.Glu365AspfsTer6
XM_024447163.1:c.1728del XP_024302931.1:p.Glu576AspfsTer6
XM_024447164.1:c.1728del XP_024302932.1:p.Glu576AspfsTer6
XM_024447165.1:c.1095del XP_024302933.1:p.Glu365AspfsTer6
NM_002485.5:c.1974del MANE Select NP_002476.2:p.Glu658AspfsTer6
NM_001024688.3:c.1728del NP_001019859.1:p.Glu576AspfsTer6