Canonical Allele Identifier: CA1801469833
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982680A= , CM000670.2:g.89982680A= GRCh38
NC_000008.10:g.90994908A= , CM000670.1:g.90994908A= GRCh37
NC_000008.9:g.91064084A= NCBI36
NG_008860.1:g.6992T= , LRG_158:g.6992T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.317T=
ENST00000517337.2:c.-126+42T= ENSP00000429971.2:n.-126+42T=
ENST00000523444.2:c.-126+42T= ENSP00000428252.2:n.-126+42T=
ENST00000697292.1:c.171+42T= ENSP00000513229.1:n.171+42T=
ENST00000697293.1:c.171+42T= ENSP00000513230.1:n.171+42T=
ENST00000697294.1:c.171+42T= ENSP00000513231.1:n.171+42T=
ENST00000697295.1:c.37+1845T= ENSP00000513232.1:n.37+1845T=
ENST00000697296.1:c.171+42T= ENSP00000513233.1:n.171+42T=
ENST00000697297.1:n.319T=
ENST00000697298.1:c.-126+42T= ENSP00000513234.1:n.-126+42T=
ENST00000697299.1:c.-75-1157T= ENSP00000513235.1:n.-75-1157T=
ENST00000697300.1:c.-126+42T= ENSP00000513236.1:n.-126+42T=
ENST00000697301.1:c.-126+42T= ENSP00000513237.1:n.-126+42T=
ENST00000697302.1:c.171+42T= ENSP00000513238.1:n.171+42T=
ENST00000697303.1:c.171+42T= ENSP00000513239.1:n.171+42T=
ENST00000697304.1:c.171+42T= ENSP00000513240.1:n.171+42T=
ENST00000697306.1:c.171+42T= ENSP00000513241.1:n.171+42T=
ENST00000697307.1:c.171+42T= ENSP00000513242.1:n.171+42T=
ENST00000697308.1:c.171+42T= ENSP00000513243.1:n.171+42T=
ENST00000697309.1:c.171+42T= ENSP00000513244.1:n.171+42T=
ENST00000697310.1:c.171+42T= ENSP00000513245.1:n.171+42T=
ENST00000697311.1:c.171+42T= ENSP00000513246.1:n.171+42T=
ENST00000697312.1:c.171+42T= ENSP00000513247.1:n.171+42T=
ENST00000697313.1:n.325T=
ENST00000697314.1:n.325T=
ENST00000697315.1:c.171+42T= ENSP00000513248.1:n.171+42T=
ENST00000697316.1:n.292+42T=
ENST00000697317.1:n.281+42T=
ENST00000697318.1:n.283+42T=
ENST00000265433.8:c.171+42T= MANE Select ENSP00000265433.4:n.171+42T=
ENST00000265433.7:c.171+42T= ENSP00000265433.3:n.171+42T=
ENST00000396252.6:c.171+42T= ENSP00000379551.2:n.171+42T=
ENST00000409330.5:c.-76+42T= ENSP00000386924.1:n.-76+42T=
ENST00000494804.1:n.317T=
ENST00000517337.1:c.-126+42T= ENSP00000429971.1:n.-126+42T=
ENST00000519426.5:c.171+42T= ENSP00000430983.1:n.171+42T=
ENST00000523444.1:c.171+42T= ENSP00000428252.1:n.171+42T=
NM_001024688.2:c.-126+42T= NP_001019859.1:n.-126+42T=
NM_002485.4:c.171+42T= , LRG_158t1:c.171+42T= NP_002476.2:n.171+42T=
XM_011517044.1:c.147+42T= XP_011515346.1:n.147+42T=
XM_011517045.1:c.-126+42T= XP_011515347.1:n.-126+42T=
XM_011517046.1:c.171+42T= XP_011515348.1:n.171+42T=
XR_928335.1:n.308+42T=
XM_017013460.1:c.-849+42T= XP_016868949.1:n.-849+42T=
XM_017013462.2:c.-655+42T= XP_016868951.1:n.-655+42T=
XM_024447163.1:c.-76+42T= XP_024302931.1:n.-76+42T=
XM_024447165.1:c.-799+42T= XP_024302933.1:n.-799+42T=
NM_002485.5:c.171+42T= MANE Select NP_002476.2:n.171+42T=
NM_001024688.3:c.-126+42T= NP_001019859.1:n.-126+42T=