Canonical Allele Identifier: CA1801516674
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978253A= , CM000670.2:g.89978253A= GRCh38
NC_000008.10:g.90990481A= , CM000670.1:g.90990481A= GRCh37
NC_000008.9:g.91059657A= NCBI36
NG_008860.1:g.11419T= , LRG_158:g.11419T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1853T=
ENST00000517337.2:c.305T= ENSP00000429971.2:p.Val102=
ENST00000523444.2:c.305T= ENSP00000428252.2:p.Val102=
ENST00000697292.1:c.551T= ENSP00000513229.1:p.Val184=
ENST00000697293.1:c.551T= ENSP00000513230.1:p.Val184=
ENST00000697294.1:c.*162T= ENSP00000513231.1:n.*162T=
ENST00000697295.1:c.37+6272T= ENSP00000513232.1:n.37+6272T=
ENST00000697296.1:c.*219T= ENSP00000513233.1:n.*219T=
ENST00000697297.1:n.2336T=
ENST00000697298.1:c.305T= ENSP00000513234.1:p.Val102=
ENST00000697299.1:c.305T= ENSP00000513235.1:p.Val102=
ENST00000697300.1:c.*155T= ENSP00000513236.1:n.*155T=
ENST00000697301.1:c.*72T= ENSP00000513237.1:n.*72T=
ENST00000697302.1:c.*72T= ENSP00000513238.1:n.*72T=
ENST00000697303.1:c.*155T= ENSP00000513239.1:n.*155T=
ENST00000697304.1:c.551T= ENSP00000513240.1:p.Val184=
ENST00000697306.1:c.480+2481T= ENSP00000513241.1:n.480+2481T=
ENST00000697307.1:c.551T= ENSP00000513242.1:p.Val184=
ENST00000697308.1:c.551T= ENSP00000513243.1:p.Val184=
ENST00000697309.1:c.551T= ENSP00000513244.1:p.Val184=
ENST00000697310.1:c.551T= ENSP00000513245.1:p.Val184=
ENST00000697311.1:c.551T= ENSP00000513246.1:p.Val184=
ENST00000697312.1:c.480+2481T= ENSP00000513247.1:n.480+2481T=
ENST00000697313.1:n.2342T=
ENST00000697314.1:n.2342T=
ENST00000697315.1:c.551T= ENSP00000513248.1:p.Val184=
ENST00000697316.1:n.672T=
ENST00000697317.1:n.661T=
ENST00000697318.1:n.663T=
ENST00000265433.8:c.551T= MANE Select ENSP00000265433.4:p.Val184=
ENST00000265433.7:c.551T= ENSP00000265433.3:p.Val184=
ENST00000396252.6:c.*424T= ENSP00000379551.2:n.*424T=
ENST00000409330.5:c.305T= ENSP00000386924.1:p.Val102=
ENST00000517772.5:c.305T= ENSP00000428717.1:p.Val102=
ENST00000519426.5:c.320+3122T= ENSP00000430983.1:n.320+3122T=
NM_001024688.2:c.305T= NP_001019859.1:p.Val102=
NM_002485.4:c.551T= , LRG_158t1:c.551T= NP_002476.2:p.Val184=
XM_011517044.1:c.527T= XP_011515346.1:p.Val176=
XM_011517045.1:c.305T= XP_011515347.1:p.Val102=
XM_011517046.1:c.551T= XP_011515348.1:p.Val184=
XR_928335.1:n.688T=
XM_017013460.1:c.-329T= XP_016868949.1:n.-329T=
XM_017013462.2:c.-296+2481T= XP_016868951.1:n.-296+2481T=
XM_024447163.1:c.305T= XP_024302931.1:p.Val102=
XM_024447164.1:c.305T= XP_024302932.1:p.Val102=
XM_024447165.1:c.-329T= XP_024302933.1:n.-329T=
NM_002485.5:c.551T= MANE Select NP_002476.2:p.Val184=
NM_001024688.3:c.305T= NP_001019859.1:p.Val102=