Canonical Allele Identifier: CA2697550006
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 2753936
ClinVar RCV Id: RCV003507066

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946121del , CM000670.2:g.89946121del GRCh38
NC_000008.10:g.90958349del , CM000670.1:g.90958349del GRCh37
NC_000008.9:g.91027525del NCBI36
NG_008860.1:g.43551del , LRG_158:g.43551del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3372+19del
ENST00000517337.2:c.1824+19del ENSP00000429971.2:n.1824+19del
ENST00000523444.2:c.1824+19del ENSP00000428252.2:n.1824+19del
ENST00000697292.1:c.2070+19del ENSP00000513229.1:n.2070+19del
ENST00000697293.1:c.2070+19del ENSP00000513230.1:n.2070+19del
ENST00000697294.1:c.*1681+19del ENSP00000513231.1:n.*1681+19del
ENST00000697295.1:c.*1379+19del ENSP00000513232.1:n.*1379+19del
ENST00000697296.1:c.*1738+19del ENSP00000513233.1:n.*1738+19del
ENST00000697297.1:n.3855+19del
ENST00000697298.1:c.1824+19del ENSP00000513234.1:n.1824+19del
ENST00000697299.1:c.1824+19del ENSP00000513235.1:n.1824+19del
ENST00000697300.1:c.*1674+19del ENSP00000513236.1:n.*1674+19del
ENST00000697301.1:c.*1591+19del ENSP00000513237.1:n.*1591+19del
ENST00000697302.1:c.*1591+19del ENSP00000513238.1:n.*1591+19del
ENST00000697303.1:c.*1674+19del ENSP00000513239.1:n.*1674+19del
ENST00000697304.1:c.1758+19del ENSP00000513240.1:n.1758+19del
ENST00000697306.1:c.*2621+19del ENSP00000513241.1:n.*2621+19del
ENST00000697307.1:c.1846-2755del ENSP00000513242.1:n.1846-2755del
ENST00000697308.1:c.2001+19del ENSP00000513243.1:n.2001+19del
ENST00000697309.1:c.2070+19del ENSP00000513244.1:n.2070+19del
ENST00000697310.1:c.2070+19del ENSP00000513245.1:n.2070+19del
ENST00000697311.1:c.2070+19del ENSP00000513246.1:n.2070+19del
ENST00000697312.1:c.*1468+19del ENSP00000513247.1:n.*1468+19del
ENST00000697313.1:n.2688-10509del
ENST00000697314.1:n.3636+7123del
ENST00000697315.1:c.2070+19del ENSP00000513248.1:n.2070+19del
ENST00000697316.1:n.2191+19del
ENST00000697317.1:n.2180del
ENST00000265433.8:c.2070+19del MANE Select ENSP00000265433.4:n.2070+19del
ENST00000265433.7:c.2070+19del ENSP00000265433.3:n.2070+19del
ENST00000396252.6:c.*1943+19del ENSP00000379551.2:n.*1943+19del
ENST00000409330.5:c.1824+19del ENSP00000386924.1:n.1824+19del
ENST00000520325.1:n.486+19del
ENST00000613033.1:c.180+1703del ENSP00000484487.1:n.180+1703del
NM_001024688.2:c.1824+19del NP_001019859.1:n.1824+19del
NM_002485.4:c.2070+19del , LRG_158t1:c.2070+19del NP_002476.2:n.2070+19del
XM_011517044.1:c.2046+19del XP_011515346.1:n.2046+19del
XM_011517045.1:c.1824+19del XP_011515347.1:n.1824+19del
XM_017013460.1:c.1191+19del XP_016868949.1:n.1191+19del
XM_017013462.2:c.1191+19del XP_016868951.1:n.1191+19del
XM_024447163.1:c.1824+19del XP_024302931.1:n.1824+19del
XM_024447164.1:c.1824+19del XP_024302932.1:n.1824+19del
XM_024447165.1:c.1191+19del XP_024302933.1:n.1191+19del
NM_002485.5:c.2070+19del MANE Select NP_002476.2:n.2070+19del
NM_001024688.3:c.1824+19del NP_001019859.1:n.1824+19del