Canonical Allele Identifier: CA2695201495
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955283dup , CM000670.2:g.89955283dup GRCh38
NC_000008.10:g.90967511dup , CM000670.1:g.90967511dup GRCh37
NC_000008.9:g.91036687dup NCBI36
NG_008860.1:g.34390dup , LRG_158:g.34390dup

Transcript Alleles

HGVS Amino-acid Change
NM_001024688.2:c.1151+1dup
NM_001024688.3:c.1151+1dup
NM_002485.4:c.1397+1dup , LRG_158t1:c.1397+1dup
NM_002485.5:c.1397+1dup
ENST00000265433.7:c.1397+1dup
ENST00000265433.8:c.1397+1dup
ENST00000396252.6:c.*1270+1dup
ENST00000409330.5:c.1151+1dup
ENST00000494804.2:n.2699+1dup
ENST00000517337.2:c.1151+1dup
ENST00000523444.2:c.1151+1dup
ENST00000697292.1:c.1397+1dup
ENST00000697293.1:c.1397+1dup
ENST00000697294.1:c.*1008+1dup
ENST00000697295.1:c.*706+1dup
ENST00000697296.1:c.*1065+1dup
ENST00000697297.1:n.3182+1dup
ENST00000697298.1:c.1151+1dup
ENST00000697299.1:c.1151+1dup
ENST00000697300.1:c.*1001+1dup
ENST00000697301.1:c.*918+1dup
ENST00000697302.1:c.*918+1dup
ENST00000697303.1:c.*1001+1dup
ENST00000697304.1:c.1085+1dup
ENST00000697306.1:c.*397+1dup
ENST00000697307.1:c.1397+1dup
ENST00000697308.1:c.1397+1dup
ENST00000697309.1:c.1397+1dup
ENST00000697310.1:c.1397+1dup
ENST00000697311.1:c.1397+1dup
ENST00000697312.1:c.*795+1dup
ENST00000697313.1:n.2687+15082dup
ENST00000697314.1:n.3188+1dup
ENST00000697315.1:c.1397+1dup
ENST00000697316.1:n.1518+1dup
ENST00000697317.1:n.1507+1dup
ENST00000697318.1:n.1509+1dup
XM_011517044.1:c.1373+1dup
XM_011517045.1:c.1151+1dup
XM_011517046.1:c.1395+3dup XP_011515348.1:n.1395+3dup
XM_017013460.1:c.518+1dup
XM_017013462.2:c.518+1dup
XM_024447163.1:c.1151+1dup
XM_024447164.1:c.1151+1dup
XM_024447165.1:c.518+1dup
XR_928335.1:n.1533+2dup