Canonical Allele Identifier: CA2499219438
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 1070710
ClinVar RCV Id: RCV001382958
dbSNP Id: rs2129889298

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978283_89978284insA , CM000670.2:g.89978283_89978284insA GRCh38
NC_000008.10:g.90990511_90990512insA , CM000670.1:g.90990511_90990512insA GRCh37
NC_000008.9:g.91059687_91059688insA NCBI36
NG_008860.1:g.11388_11389insT , LRG_158:g.11388_11389insT

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1822_1823insT
ENST00000517337.2:c.274_275insT ENSP00000429971.2:p.Pro92LeufsTer6
ENST00000523444.2:c.274_275insT ENSP00000428252.2:p.Pro92LeufsTer6
ENST00000697292.1:c.520_521insT ENSP00000513229.1:p.Pro174LeufsTer6
ENST00000697293.1:c.520_521insT ENSP00000513230.1:p.Pro174LeufsTer6
ENST00000697294.1:c.*131_*132insT ENSP00000513231.1:n.*131_*132insT
ENST00000697295.1:c.37+6241_37+6242insT ENSP00000513232.1:n.37+6241_37+6242insT
ENST00000697296.1:c.*188_*189insT ENSP00000513233.1:n.*188_*189insT
ENST00000697297.1:n.2305_2306insT
ENST00000697298.1:c.274_275insT ENSP00000513234.1:p.Pro92LeufsTer6
ENST00000697299.1:c.274_275insT ENSP00000513235.1:p.Pro92LeufsTer6
ENST00000697300.1:c.*124_*125insT ENSP00000513236.1:n.*124_*125insT
ENST00000697301.1:c.*41_*42insT ENSP00000513237.1:n.*41_*42insT
ENST00000697302.1:c.*41_*42insT ENSP00000513238.1:n.*41_*42insT
ENST00000697303.1:c.*124_*125insT ENSP00000513239.1:n.*124_*125insT
ENST00000697304.1:c.520_521insT ENSP00000513240.1:p.Pro174LeufsTer6
ENST00000697306.1:c.480+2450_480+2451insT ENSP00000513241.1:n.480+2450_480+2451insT...
ENST00000697307.1:c.520_521insT ENSP00000513242.1:p.Pro174LeufsTer6
ENST00000697308.1:c.520_521insT ENSP00000513243.1:p.Pro174LeufsTer6
ENST00000697309.1:c.520_521insT ENSP00000513244.1:p.Pro174LeufsTer6
ENST00000697310.1:c.520_521insT ENSP00000513245.1:p.Pro174LeufsTer6
ENST00000697311.1:c.520_521insT ENSP00000513246.1:p.Pro174LeufsTer6
ENST00000697312.1:c.480+2450_480+2451insT ENSP00000513247.1:n.480+2450_480+2451insT...
ENST00000697313.1:n.2311_2312insT
ENST00000697314.1:n.2311_2312insT
ENST00000697315.1:c.520_521insT ENSP00000513248.1:p.Pro174LeufsTer6
ENST00000697316.1:n.641_642insT
ENST00000697317.1:n.630_631insT
ENST00000697318.1:n.632_633insT
ENST00000265433.8:c.520_521insT MANE Select ENSP00000265433.4:p.Pro174LeufsTer6
ENST00000265433.7:c.520_521insT ENSP00000265433.3:p.Pro174LeufsTer6
ENST00000396252.6:c.*393_*394insT ENSP00000379551.2:n.*393_*394insT
ENST00000409330.5:c.274_275insT ENSP00000386924.1:p.Pro92LeufsTer6
ENST00000517337.1:c.274_275insT ENSP00000429971.1:p.Pro92LeufsTer?
ENST00000517772.5:c.274_275insT ENSP00000428717.1:p.Pro92LeufsTer6
ENST00000519426.5:c.320+3091_320+3092insT ENSP00000430983.1:n.320+3091_320+3092insT...
ENST00000523444.1:c.*352_*353insT ENSP00000428252.1:n.*352_*353insT
NM_001024688.2:c.274_275insT NP_001019859.1:p.Pro92LeufsTer6
NM_002485.4:c.520_521insT , LRG_158t1:c.520_521insT NP_002476.2:p.Pro174LeufsTer6
XM_011517044.1:c.496_497insT XP_011515346.1:p.Pro166LeufsTer6
XM_011517045.1:c.274_275insT XP_011515347.1:p.Pro92LeufsTer6
XM_011517046.1:c.520_521insT XP_011515348.1:p.Pro174LeufsTer6
XR_928335.1:n.657_658insT
XM_017013460.1:c.-360_-359insT XP_016868949.1:n.-360_-359insT
XM_017013462.2:c.-296+2450_-296+2451insT XP_016868951.1:n.-296+2450_-296+2451insT
XM_024447163.1:c.274_275insT XP_024302931.1:p.Pro92LeufsTer6
XM_024447164.1:c.274_275insT XP_024302932.1:p.Pro92LeufsTer6
XM_024447165.1:c.-360_-359insT XP_024302933.1:n.-360_-359insT
NM_002485.5:c.520_521insT MANE Select NP_002476.2:p.Pro174LeufsTer6
NM_001024688.3:c.274_275insT NP_001019859.1:p.Pro92LeufsTer6