Canonical Allele Identifier: CA856700885
Gene: NBN HGNC NCBI

Linked Data

dbSNP Id: rs1385859180

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982651dup , CM000670.2:g.89982651dup GRCh38
NC_000008.10:g.90994879dup , CM000670.1:g.90994879dup GRCh37
NC_000008.9:g.91064055dup NCBI36
NG_008860.1:g.7021dup , LRG_158:g.7021dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.346dup
ENST00000517337.2:c.-126+71dup ENSP00000429971.2:n.-126+71dup
ENST00000523444.2:c.-126+71dup ENSP00000428252.2:n.-126+71dup
ENST00000697292.1:c.171+71dup ENSP00000513229.1:n.171+71dup
ENST00000697293.1:c.171+71dup ENSP00000513230.1:n.171+71dup
ENST00000697294.1:c.171+71dup ENSP00000513231.1:n.171+71dup
ENST00000697295.1:c.37+1874dup ENSP00000513232.1:n.37+1874dup
ENST00000697296.1:c.171+71dup ENSP00000513233.1:n.171+71dup
ENST00000697297.1:n.348dup
ENST00000697298.1:c.-126+71dup ENSP00000513234.1:n.-126+71dup
ENST00000697299.1:c.-75-1128dup ENSP00000513235.1:n.-75-1128dup
ENST00000697300.1:c.-126+71dup ENSP00000513236.1:n.-126+71dup
ENST00000697301.1:c.-126+71dup ENSP00000513237.1:n.-126+71dup
ENST00000697302.1:c.171+71dup ENSP00000513238.1:n.171+71dup
ENST00000697303.1:c.171+71dup ENSP00000513239.1:n.171+71dup
ENST00000697304.1:c.171+71dup ENSP00000513240.1:n.171+71dup
ENST00000697306.1:c.171+71dup ENSP00000513241.1:n.171+71dup
ENST00000697307.1:c.171+71dup ENSP00000513242.1:n.171+71dup
ENST00000697308.1:c.171+71dup ENSP00000513243.1:n.171+71dup
ENST00000697309.1:c.171+71dup ENSP00000513244.1:n.171+71dup
ENST00000697310.1:c.171+71dup ENSP00000513245.1:n.171+71dup
ENST00000697311.1:c.171+71dup ENSP00000513246.1:n.171+71dup
ENST00000697312.1:c.171+71dup ENSP00000513247.1:n.171+71dup
ENST00000697313.1:n.354dup
ENST00000697314.1:n.354dup
ENST00000697315.1:c.171+71dup ENSP00000513248.1:n.171+71dup
ENST00000697316.1:n.292+71dup
ENST00000697317.1:n.281+71dup
ENST00000697318.1:n.283+71dup
ENST00000265433.8:c.171+71dup MANE Select ENSP00000265433.4:n.171+71dup
ENST00000265433.7:c.171+71dup ENSP00000265433.3:n.171+71dup
ENST00000396252.6:c.171+71dup ENSP00000379551.2:n.171+71dup
ENST00000409330.5:c.-76+71dup ENSP00000386924.1:n.-76+71dup
ENST00000494804.1:n.346dup
ENST00000517337.1:c.-126+71dup ENSP00000429971.1:n.-126+71dup
ENST00000519426.5:c.171+71dup ENSP00000430983.1:n.171+71dup
ENST00000523444.1:c.171+71dup ENSP00000428252.1:n.171+71dup
NM_001024688.2:c.-126+71dup NP_001019859.1:n.-126+71dup
NM_002485.4:c.171+71dup , LRG_158t1:c.171+71dup NP_002476.2:n.171+71dup
XM_011517044.1:c.147+71dup XP_011515346.1:n.147+71dup
XM_011517045.1:c.-126+71dup XP_011515347.1:n.-126+71dup
XM_011517046.1:c.171+71dup XP_011515348.1:n.171+71dup
XR_928335.1:n.308+71dup
XM_017013460.1:c.-849+71dup XP_016868949.1:n.-849+71dup
XM_017013462.2:c.-655+71dup XP_016868951.1:n.-655+71dup
XM_024447163.1:c.-76+71dup XP_024302931.1:n.-76+71dup
XM_024447165.1:c.-799+71dup XP_024302933.1:n.-799+71dup
NM_002485.5:c.171+71dup MANE Select NP_002476.2:n.171+71dup
NM_001024688.3:c.-126+71dup NP_001019859.1:n.-126+71dup