Canonical Allele Identifier: CA1801415402
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937039C= , CM000670.2:g.89937039C= GRCh38
NC_000008.10:g.90949267C= , CM000670.1:g.90949267C= GRCh37
NC_000008.9:g.91018443C= NCBI36
NG_008860.1:g.52633G= , LRG_158:g.52633G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3641G=
ENST00000494804.2:n.3523G=
ENST00000517337.2:c.1975G= ENSP00000429971.2:p.Asp659=
ENST00000523444.2:c.1975G= ENSP00000428252.2:p.Asp659=
ENST00000697292.1:c.2221G= ENSP00000513229.1:p.Asp741=
ENST00000697293.1:c.2272G= ENSP00000513230.1:p.Asp758=
ENST00000697294.1:c.*1832G= ENSP00000513231.1:n.*1832G=
ENST00000697295.1:c.*1530G= ENSP00000513232.1:n.*1530G=
ENST00000697296.1:c.*1889G= ENSP00000513233.1:n.*1889G=
ENST00000697297.1:n.4006G=
ENST00000697298.1:c.1975G= ENSP00000513234.1:p.Asp659=
ENST00000697299.1:c.1975G= ENSP00000513235.1:p.Asp659=
ENST00000697300.1:c.*1825G= ENSP00000513236.1:n.*1825G=
ENST00000697301.1:c.*1742G= ENSP00000513237.1:n.*1742G=
ENST00000697302.1:c.*1742G= ENSP00000513238.1:n.*1742G=
ENST00000697303.1:c.*1825G= ENSP00000513239.1:n.*1825G=
ENST00000697304.1:c.1909G= ENSP00000513240.1:p.Asp637=
ENST00000697305.1:n.2488G=
ENST00000697306.1:c.*2772G= ENSP00000513241.1:n.*2772G=
ENST00000697307.1:c.1996G= ENSP00000513242.1:p.Asp666=
ENST00000697308.1:c.2152G= ENSP00000513243.1:p.Asp718=
ENST00000697309.1:c.2185-1427G= ENSP00000513244.1:n.2185-1427G=
ENST00000697310.1:c.2221G= ENSP00000513245.1:p.Asp741=
ENST00000697311.1:c.*486G= ENSP00000513246.1:n.*486G=
ENST00000697312.1:c.*1674G= ENSP00000513247.1:n.*1674G=
ENST00000697313.1:n.2688-1427G=
ENST00000697314.1:n.3637-1427G=
ENST00000697315.1:c.*125G= ENSP00000513248.1:n.*125G=
ENST00000697316.1:n.2342G=
ENST00000265433.8:c.2221G= MANE Select ENSP00000265433.4:p.Asp741=
ENST00000265433.7:c.2221G= ENSP00000265433.3:p.Asp741=
ENST00000396252.6:c.*2094G= ENSP00000379551.2:n.*2094G=
ENST00000409330.5:c.1975G= ENSP00000386924.1:p.Asp659=
ENST00000474821.1:n.309G=
ENST00000613033.1:c.331G= ENSP00000484487.1:p.Asp111=
NM_001024688.2:c.1975G= NP_001019859.1:p.Asp659=
NM_002485.4:c.2221G= , LRG_158t1:c.2221G= NP_002476.2:p.Asp741=
XM_011517044.1:c.2197G= XP_011515346.1:p.Asp733=
XM_011517045.1:c.1975G= XP_011515347.1:p.Asp659=
XM_017013460.1:c.1342G= XP_016868949.1:p.Asp448=
XM_017013462.2:c.1342G= XP_016868951.1:p.Asp448=
XM_024447163.1:c.1975G= XP_024302931.1:p.Asp659=
XM_024447164.1:c.1975G= XP_024302932.1:p.Asp659=
XM_024447165.1:c.1342G= XP_024302933.1:p.Asp448=
NM_002485.5:c.2221G= MANE Select NP_002476.2:p.Asp741=
NM_001024688.3:c.1975G= NP_001019859.1:p.Asp659=