Canonical Allele Identifier: CA1801419469
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946140C= , CM000670.2:g.89946140C= GRCh38
NC_000008.10:g.90958368C= , CM000670.1:g.90958368C= GRCh37
NC_000008.9:g.91027544C= NCBI36
NG_008860.1:g.43532G= , LRG_158:g.43532G=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3372G=
ENST00000517337.2:c.1824G= ENSP00000429971.2:p.Lys608=
ENST00000523444.2:c.1824G= ENSP00000428252.2:p.Lys608=
ENST00000697292.1:c.2070G= ENSP00000513229.1:p.Lys690=
ENST00000697293.1:c.2070G= ENSP00000513230.1:p.Lys690=
ENST00000697294.1:c.*1681G= ENSP00000513231.1:n.*1681G=
ENST00000697295.1:c.*1379G= ENSP00000513232.1:n.*1379G=
ENST00000697296.1:c.*1738G= ENSP00000513233.1:n.*1738G=
ENST00000697297.1:n.3855G=
ENST00000697298.1:c.1824G= ENSP00000513234.1:p.Lys608=
ENST00000697299.1:c.1824G= ENSP00000513235.1:p.Lys608=
ENST00000697300.1:c.*1674G= ENSP00000513236.1:n.*1674G=
ENST00000697301.1:c.*1591G= ENSP00000513237.1:n.*1591G=
ENST00000697302.1:c.*1591G= ENSP00000513238.1:n.*1591G=
ENST00000697303.1:c.*1674G= ENSP00000513239.1:n.*1674G=
ENST00000697304.1:c.1758G= ENSP00000513240.1:p.Lys586=
ENST00000697306.1:c.*2621G= ENSP00000513241.1:n.*2621G=
ENST00000697307.1:c.1846-2774G= ENSP00000513242.1:n.1846-2774G=
ENST00000697308.1:c.2001G= ENSP00000513243.1:p.Lys667=
ENST00000697309.1:c.2070G= ENSP00000513244.1:p.Lys690=
ENST00000697310.1:c.2070G= ENSP00000513245.1:p.Lys690=
ENST00000697311.1:c.2070G= ENSP00000513246.1:p.Lys690=
ENST00000697312.1:c.*1468G= ENSP00000513247.1:n.*1468G=
ENST00000697313.1:n.2688-10528G=
ENST00000697314.1:n.3636+7104G=
ENST00000697315.1:c.2070G= ENSP00000513248.1:p.Lys690=
ENST00000697316.1:n.2191G=
ENST00000697317.1:n.2161G=
ENST00000265433.8:c.2070G= MANE Select ENSP00000265433.4:p.Lys690=
ENST00000265433.7:c.2070G= ENSP00000265433.3:p.Lys690=
ENST00000396252.6:c.*1943G= ENSP00000379551.2:n.*1943G=
ENST00000409330.5:c.1824G= ENSP00000386924.1:p.Lys608=
ENST00000520325.1:n.486G=
ENST00000613033.1:c.180+1684G= ENSP00000484487.1:n.180+1684G=
NM_001024688.2:c.1824G= NP_001019859.1:p.Lys608=
NM_002485.4:c.2070G= , LRG_158t1:c.2070G= NP_002476.2:p.Lys690=
XM_011517044.1:c.2046G= XP_011515346.1:p.Lys682=
XM_011517045.1:c.1824G= XP_011515347.1:p.Lys608=
XM_017013460.1:c.1191G= XP_016868949.1:p.Lys397=
XM_017013462.2:c.1191G= XP_016868951.1:p.Lys397=
XM_024447163.1:c.1824G= XP_024302931.1:p.Lys608=
XM_024447164.1:c.1824G= XP_024302932.1:p.Lys608=
XM_024447165.1:c.1191G= XP_024302933.1:p.Lys397=
NM_002485.5:c.2070G= MANE Select NP_002476.2:p.Lys690=
NM_001024688.3:c.1824G= NP_001019859.1:p.Lys608=