Canonical Allele Identifier: CA1801420233
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947772T= , CM000670.2:g.89947772T= GRCh38
NC_000008.10:g.90960000T= , CM000670.1:g.90960000T= GRCh37
NC_000008.9:g.91029176T= NCBI36
NG_008860.1:g.41900A= , LRG_158:g.41900A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3216+52A=
ENST00000517337.2:c.1668+52A= ENSP00000429971.2:n.1668+52A=
ENST00000523444.2:c.1668+52A= ENSP00000428252.2:n.1668+52A=
ENST00000697292.1:c.1914+52A= ENSP00000513229.1:n.1914+52A=
ENST00000697293.1:c.1914+52A= ENSP00000513230.1:n.1914+52A=
ENST00000697294.1:c.*1525+52A= ENSP00000513231.1:n.*1525+52A=
ENST00000697295.1:c.*1223+52A= ENSP00000513232.1:n.*1223+52A=
ENST00000697296.1:c.*1582+52A= ENSP00000513233.1:n.*1582+52A=
ENST00000697297.1:n.3699+52A=
ENST00000697298.1:c.1668+52A= ENSP00000513234.1:n.1668+52A=
ENST00000697299.1:c.1668+52A= ENSP00000513235.1:n.1668+52A=
ENST00000697300.1:c.*1518+52A= ENSP00000513236.1:n.*1518+52A=
ENST00000697301.1:c.*1435+52A= ENSP00000513237.1:n.*1435+52A=
ENST00000697302.1:c.*1435+52A= ENSP00000513238.1:n.*1435+52A=
ENST00000697303.1:c.*1518+52A= ENSP00000513239.1:n.*1518+52A=
ENST00000697304.1:c.1602+52A= ENSP00000513240.1:n.1602+52A=
ENST00000697306.1:c.*989A= ENSP00000513241.1:n.*989A=
ENST00000697307.1:c.1846-4406A= ENSP00000513242.1:n.1846-4406A=
ENST00000697308.1:c.1846-1477A= ENSP00000513243.1:n.1846-1477A=
ENST00000697309.1:c.1914+52A= ENSP00000513244.1:n.1914+52A=
ENST00000697310.1:c.1914+52A= ENSP00000513245.1:n.1914+52A=
ENST00000697311.1:c.1914+52A= ENSP00000513246.1:n.1914+52A=
ENST00000697312.1:c.*1312+52A= ENSP00000513247.1:n.*1312+52A=
ENST00000697313.1:n.2688-12160A=
ENST00000697314.1:n.3636+5472A=
ENST00000697315.1:c.1914+52A= ENSP00000513248.1:n.1914+52A=
ENST00000697316.1:n.2035+52A=
ENST00000697317.1:n.2005+71A=
ENST00000265433.8:c.1914+52A= MANE Select ENSP00000265433.4:n.1914+52A=
ENST00000265433.7:c.1914+52A= ENSP00000265433.3:n.1914+52A=
ENST00000396252.6:c.*1787+52A= ENSP00000379551.2:n.*1787+52A=
ENST00000409330.5:c.1668+52A= ENSP00000386924.1:n.1668+52A=
ENST00000613033.1:c.180+52A= ENSP00000484487.1:n.180+52A=
NM_001024688.2:c.1668+52A= NP_001019859.1:n.1668+52A=
NM_002485.4:c.1914+52A= , LRG_158t1:c.1914+52A= NP_002476.2:n.1914+52A=
XM_011517044.1:c.1890+52A= XP_011515346.1:n.1890+52A=
XM_011517045.1:c.1668+52A= XP_011515347.1:n.1668+52A=
XR_928335.1:n.2053+52A=
XM_017013460.1:c.1035+52A= XP_016868949.1:n.1035+52A=
XM_017013462.2:c.1035+52A= XP_016868951.1:n.1035+52A=
XM_024447163.1:c.1668+52A= XP_024302931.1:n.1668+52A=
XM_024447164.1:c.1668+52A= XP_024302932.1:n.1668+52A=
XM_024447165.1:c.1035+52A= XP_024302933.1:n.1035+52A=
NM_002485.5:c.1914+52A= MANE Select NP_002476.2:n.1914+52A=
NM_001024688.3:c.1668+52A= NP_001019859.1:n.1668+52A=