Canonical Allele Identifier: CA1801420281
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947852T= , CM000670.2:g.89947852T= GRCh38
NC_000008.10:g.90960080T= , CM000670.1:g.90960080T= GRCh37
NC_000008.9:g.91029256T= NCBI36
NG_008860.1:g.41820A= , LRG_158:g.41820A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3188A=
ENST00000517337.2:c.1640A= ENSP00000429971.2:p.Asp547=
ENST00000523444.2:c.1640A= ENSP00000428252.2:p.Asp547=
ENST00000697292.1:c.1886A= ENSP00000513229.1:p.Asp629=
ENST00000697293.1:c.1886A= ENSP00000513230.1:p.Asp629=
ENST00000697294.1:c.*1497A= ENSP00000513231.1:n.*1497A=
ENST00000697295.1:c.*1195A= ENSP00000513232.1:n.*1195A=
ENST00000697296.1:c.*1554A= ENSP00000513233.1:n.*1554A=
ENST00000697297.1:n.3671A=
ENST00000697298.1:c.1640A= ENSP00000513234.1:p.Asp547=
ENST00000697299.1:c.1640A= ENSP00000513235.1:p.Asp547=
ENST00000697300.1:c.*1490A= ENSP00000513236.1:n.*1490A=
ENST00000697301.1:c.*1407A= ENSP00000513237.1:n.*1407A=
ENST00000697302.1:c.*1407A= ENSP00000513238.1:n.*1407A=
ENST00000697303.1:c.*1490A= ENSP00000513239.1:n.*1490A=
ENST00000697304.1:c.1574A= ENSP00000513240.1:p.Asp525=
ENST00000697306.1:c.*909A= ENSP00000513241.1:n.*909A=
ENST00000697307.1:c.1846-4486A= ENSP00000513242.1:n.1846-4486A=
ENST00000697308.1:c.1846-1557A= ENSP00000513243.1:n.1846-1557A=
ENST00000697309.1:c.1886A= ENSP00000513244.1:p.Asp629=
ENST00000697310.1:c.1886A= ENSP00000513245.1:p.Asp629=
ENST00000697311.1:c.1886A= ENSP00000513246.1:p.Asp629=
ENST00000697312.1:c.*1284A= ENSP00000513247.1:n.*1284A=
ENST00000697313.1:n.2688-12240A=
ENST00000697314.1:n.3636+5392A=
ENST00000697315.1:c.1886A= ENSP00000513248.1:p.Asp629=
ENST00000697316.1:n.2007A=
ENST00000697317.1:n.1996A=
ENST00000265433.8:c.1886A= MANE Select ENSP00000265433.4:p.Asp629=
ENST00000265433.7:c.1886A= ENSP00000265433.3:p.Asp629=
ENST00000396252.6:c.*1759A= ENSP00000379551.2:n.*1759A=
ENST00000409330.5:c.1640A= ENSP00000386924.1:p.Asp547=
ENST00000613033.1:c.152A= ENSP00000484487.1:p.Asp51=
NM_001024688.2:c.1640A= NP_001019859.1:p.Asp547=
NM_002485.4:c.1886A= , LRG_158t1:c.1886A= NP_002476.2:p.Asp629=
XM_011517044.1:c.1862A= XP_011515346.1:p.Asp621=
XM_011517045.1:c.1640A= XP_011515347.1:p.Asp547=
XR_928335.1:n.2025A=
XM_017013460.1:c.1007A= XP_016868949.1:p.Asp336=
XM_017013462.2:c.1007A= XP_016868951.1:p.Asp336=
XM_024447163.1:c.1640A= XP_024302931.1:p.Asp547=
XM_024447164.1:c.1640A= XP_024302932.1:p.Asp547=
XM_024447165.1:c.1007A= XP_024302933.1:p.Asp336=
NM_002485.5:c.1886A= MANE Select NP_002476.2:p.Asp629=
NM_001024688.3:c.1640A= NP_001019859.1:p.Asp547=