Canonical Allele Identifier: CA1801522171
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89981483_89981485delinsTTA , CM000670.2:g.89981483_89981485delinsTTA GRCh38
NC_000008.10:g.90993711_90993713delinsTTA , CM000670.1:g.90993711_90993713delinsTTA GRCh37
NC_000008.9:g.91062887_91062889delinsTTA NCBI36
NG_008860.1:g.8187_8189delinsTAA , LRG_158:g.8187_8189delinsTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1512_1514delinsTAA
ENST00000517337.2:c.-37_-35delinsTAA ENSP00000429971.2:n.-37_-35delinsTAA
ENST00000523444.2:c.-37_-35delinsTAA ENSP00000428252.2:n.-37_-35delinsTAA
ENST00000697292.1:c.210_212delinsTAA ENSP00000513229.1:p.Asp70=
ENST00000697293.1:c.210_212delinsTAA ENSP00000513230.1:p.Asp70=
ENST00000697294.1:c.210_212delinsTAA ENSP00000513231.1:p.Asp70=
ENST00000697295.1:c.37+3040_37+3042delinsTAA ENSP00000513232.1:n.37+3040_37+3042delins...
ENST00000697296.1:c.172-592_172-590delinsTAA ENSP00000513233.1:n.172-592_172-590delins...
ENST00000697297.1:n.1514_1516delinsTAA
ENST00000697298.1:c.-37_-35delinsTAA ENSP00000513234.1:n.-37_-35delinsTAA
ENST00000697299.1:c.-37_-35delinsTAA ENSP00000513235.1:n.-37_-35delinsTAA
ENST00000697300.1:c.-37_-35delinsTAA ENSP00000513236.1:n.-37_-35delinsTAA
ENST00000697301.1:c.-37_-35delinsTAA ENSP00000513237.1:n.-37_-35delinsTAA
ENST00000697302.1:c.210_212delinsTAA ENSP00000513238.1:p.Asp70=
ENST00000697303.1:c.210_212delinsTAA ENSP00000513239.1:p.Asp70=
ENST00000697304.1:c.210_212delinsTAA ENSP00000513240.1:p.Asp70=
ENST00000697306.1:c.210_212delinsTAA ENSP00000513241.1:p.Asp70=
ENST00000697307.1:c.210_212delinsTAA ENSP00000513242.1:p.Asp70=
ENST00000697308.1:c.210_212delinsTAA ENSP00000513243.1:p.Asp70=
ENST00000697309.1:c.210_212delinsTAA ENSP00000513244.1:p.Asp70=
ENST00000697310.1:c.210_212delinsTAA ENSP00000513245.1:p.Asp70=
ENST00000697311.1:c.210_212delinsTAA ENSP00000513246.1:p.Asp70=
ENST00000697312.1:c.210_212delinsTAA ENSP00000513247.1:p.Asp70=
ENST00000697313.1:n.1520_1522delinsTAA
ENST00000697314.1:n.1520_1522delinsTAA
ENST00000697315.1:c.210_212delinsTAA ENSP00000513248.1:p.Asp70=
ENST00000697316.1:n.331_333delinsTAA
ENST00000697317.1:n.320_322delinsTAA
ENST00000697318.1:n.322_324delinsTAA
ENST00000265433.8:c.210_212delinsTAA MANE Select ENSP00000265433.4:p.Asp70=
ENST00000265433.7:c.210_212delinsTAA ENSP00000265433.3:p.Asp70=
ENST00000396252.6:c.*83_*85delinsTAA ENSP00000379551.2:n.*83_*85delinsTAA
ENST00000409330.5:c.-37_-35delinsTAA ENSP00000386924.1:n.-37_-35delinsTAA
ENST00000517337.1:c.-37_-35delinsTAA ENSP00000429971.1:n.-37_-35delinsTAA
ENST00000517772.5:c.-37_-35delinsTAA ENSP00000428717.1:n.-37_-35delinsTAA
ENST00000519426.5:c.210_212delinsTAA ENSP00000430983.1:p.Asp70=
ENST00000523444.1:c.*83_*85delinsTAA ENSP00000428252.1:n.*83_*85delinsTAA
NM_001024688.2:c.-37_-35delinsTAA NP_001019859.1:n.-37_-35delinsTAA
NM_002485.4:c.210_212delinsTAA , LRG_158t1:c.210_212delinsTAA NP_002476.2:p.Asp70=
XM_011517044.1:c.186_188delinsTAA XP_011515346.1:p.Asp62=
XM_011517045.1:c.-37_-35delinsTAA XP_011515347.1:n.-37_-35delinsTAA
XM_011517046.1:c.210_212delinsTAA XP_011515348.1:p.Asp70=
XR_928335.1:n.347_349delinsTAA
XM_017013460.1:c.-760_-758delinsTAA XP_016868949.1:n.-760_-758delinsTAA
XM_017013462.2:c.-566_-564delinsTAA XP_016868951.1:n.-566_-564delinsTAA
XM_024447163.1:c.-37_-35delinsTAA XP_024302931.1:n.-37_-35delinsTAA
XM_024447164.1:c.-37_-35delinsTAA XP_024302932.1:n.-37_-35delinsTAA
XM_024447165.1:c.-760_-758delinsTAA XP_024302933.1:n.-760_-758delinsTAA
NM_002485.5:c.210_212delinsTAA MANE Select NP_002476.2:p.Asp70=
NM_001024688.3:c.-37_-35delinsTAA NP_001019859.1:n.-37_-35delinsTAA