Canonical Allele Identifier: CA652537185
Gene: NBN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89980653_89980654insA , CM000670.2:g.89980653_89980654insA GRCh38
NC_000008.10:g.90992881_90992882insA , CM000670.1:g.90992881_90992882insA GRCh37
NC_000008.9:g.91062057_91062058insA NCBI36
NG_008860.1:g.9018_9019insT , LRG_158:g.9018_9019insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1782+80_1782+81insT
ENST00000517337.2:c.234+80_234+81insT ENSP00000429971.2:n.234+80_234+81insT
ENST00000523444.2:c.234+80_234+81insT ENSP00000428252.2:n.234+80_234+81insT
ENST00000697292.1:c.480+80_480+81insT ENSP00000513229.1:n.480+80_480+81insT
ENST00000697293.1:c.480+80_480+81insT ENSP00000513230.1:n.480+80_480+81insT
ENST00000697294.1:c.*1+80_*1+81insT ENSP00000513231.1:n.*1+80_*1+81insT
ENST00000697295.1:c.37+3871_37+3872insT ENSP00000513232.1:n.37+3871_37+3872insT
ENST00000697296.1:c.*148+80_*148+81insT ENSP00000513233.1:n.*148+80_*148+81insT
ENST00000697297.1:n.2265+80_2265+81insT
ENST00000697298.1:c.234+80_234+81insT ENSP00000513234.1:n.234+80_234+81insT
ENST00000697299.1:c.234+80_234+81insT ENSP00000513235.1:n.234+80_234+81insT
ENST00000697300.1:c.234+80_234+81insT ENSP00000513236.1:n.234+80_234+81insT
ENST00000697301.1:c.*1+80_*1+81insT ENSP00000513237.1:n.*1+80_*1+81insT
ENST00000697302.1:c.*1+80_*1+81insT ENSP00000513238.1:n.*1+80_*1+81insT
ENST00000697303.1:c.480+80_480+81insT ENSP00000513239.1:n.480+80_480+81insT
ENST00000697304.1:c.480+80_480+81insT ENSP00000513240.1:n.480+80_480+81insT
ENST00000697306.1:c.480+80_480+81insT ENSP00000513241.1:n.480+80_480+81insT
ENST00000697307.1:c.480+80_480+81insT ENSP00000513242.1:n.480+80_480+81insT
ENST00000697308.1:c.480+80_480+81insT ENSP00000513243.1:n.480+80_480+81insT
ENST00000697309.1:c.480+80_480+81insT ENSP00000513244.1:n.480+80_480+81insT
ENST00000697310.1:c.480+80_480+81insT ENSP00000513245.1:n.480+80_480+81insT
ENST00000697311.1:c.480+80_480+81insT ENSP00000513246.1:n.480+80_480+81insT
ENST00000697312.1:c.480+80_480+81insT ENSP00000513247.1:n.480+80_480+81insT
ENST00000697313.1:n.2271+80_2271+81insT
ENST00000697314.1:n.2271+80_2271+81insT
ENST00000697315.1:c.480+80_480+81insT ENSP00000513248.1:n.480+80_480+81insT
ENST00000697316.1:n.601+80_601+81insT
ENST00000697317.1:n.590+80_590+81insT
ENST00000697318.1:n.592+80_592+81insT
ENST00000265433.8:c.480+80_480+81insT MANE Select ENSP00000265433.4:n.480+80_480+81insT
ENST00000265433.7:c.480+80_480+81insT ENSP00000265433.3:n.480+80_480+81insT
ENST00000396252.6:c.*353+80_*353+81insT ENSP00000379551.2:n.*353+80_*353+81insT
ENST00000409330.5:c.234+80_234+81insT ENSP00000386924.1:n.234+80_234+81insT
ENST00000517337.1:c.234+80_234+81insT ENSP00000429971.1:n.234+80_234+81insT
ENST00000517772.5:c.234+80_234+81insT ENSP00000428717.1:n.234+80_234+81insT
ENST00000519426.5:c.320+721_320+722insT ENSP00000430983.1:n.320+721_320+722insT
ENST00000523444.1:c.*312+80_*312+81insT ENSP00000428252.1:n.*312+80_*312+81insT
NM_001024688.2:c.234+80_234+81insT NP_001019859.1:n.234+80_234+81insT
NM_002485.4:c.480+80_480+81insT , LRG_158t1:c.480+80_480+81insT NP_002476.2:n.480+80_480+81insT
XM_011517044.1:c.456+80_456+81insT XP_011515346.1:n.456+80_456+81insT
XM_011517045.1:c.234+80_234+81insT XP_011515347.1:n.234+80_234+81insT
XM_011517046.1:c.480+80_480+81insT XP_011515348.1:n.480+80_480+81insT
XR_928335.1:n.617+80_617+81insT
XM_017013460.1:c.-490+80_-490+81insT XP_016868949.1:n.-490+80_-490+81insT
XM_017013462.2:c.-296+80_-296+81insT XP_016868951.1:n.-296+80_-296+81insT
XM_024447163.1:c.234+80_234+81insT XP_024302931.1:n.234+80_234+81insT
XM_024447164.1:c.234+80_234+81insT XP_024302932.1:n.234+80_234+81insT
XM_024447165.1:c.-490+80_-490+81insT XP_024302933.1:n.-490+80_-490+81insT
NM_002485.5:c.480+80_480+81insT MANE Select NP_002476.2:n.480+80_480+81insT
NM_001024688.3:c.234+80_234+81insT NP_001019859.1:n.234+80_234+81insT