Canonical Allele Identifier: CA2781235302
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89953721_89953722insC , CM000670.2:g.89953721_89953722insC GRCh38
NC_000008.10:g.90965949_90965950insC , CM000670.1:g.90965949_90965950insC GRCh37
NC_000008.9:g.91035125_91035126insC NCBI36
NG_008860.1:g.35950_35951insG , LRG_158:g.35950_35951insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.2700-31_2700-30insG
ENST00000517337.2:c.1152-31_1152-30insG ENSP00000429971.2:n.1152-31_1152-30insG
ENST00000523444.2:c.1152-31_1152-30insG ENSP00000428252.2:n.1152-31_1152-30insG
ENST00000697292.1:c.1398-31_1398-30insG ENSP00000513229.1:n.1398-31_1398-30insG
ENST00000697293.1:c.1398-31_1398-30insG ENSP00000513230.1:n.1398-31_1398-30insG
ENST00000697294.1:c.*1009-31_*1009-30insG ENSP00000513231.1:n.*1009-31_*1009-30insG
ENST00000697295.1:c.*707-31_*707-30insG ENSP00000513232.1:n.*707-31_*707-30insG
ENST00000697296.1:c.*1066-31_*1066-30insG ENSP00000513233.1:n.*1066-31_*1066-30insG
ENST00000697297.1:n.3183-31_3183-30insG
ENST00000697298.1:c.1152-31_1152-30insG ENSP00000513234.1:n.1152-31_1152-30insG
ENST00000697299.1:c.1152-31_1152-30insG ENSP00000513235.1:n.1152-31_1152-30insG
ENST00000697300.1:c.*1002-31_*1002-30insG ENSP00000513236.1:n.*1002-31_*1002-30insG
ENST00000697301.1:c.*919-31_*919-30insG ENSP00000513237.1:n.*919-31_*919-30insG
ENST00000697302.1:c.*919-31_*919-30insG ENSP00000513238.1:n.*919-31_*919-30insG
ENST00000697303.1:c.*1002-31_*1002-30insG ENSP00000513239.1:n.*1002-31_*1002-30insG
ENST00000697304.1:c.1086-31_1086-30insG ENSP00000513240.1:n.1086-31_1086-30insG
ENST00000697306.1:c.*398-31_*398-30insG ENSP00000513241.1:n.*398-31_*398-30insG
ENST00000697307.1:c.1398-31_1398-30insG ENSP00000513242.1:n.1398-31_1398-30insG
ENST00000697308.1:c.1398-31_1398-30insG ENSP00000513243.1:n.1398-31_1398-30insG
ENST00000697309.1:c.1398-31_1398-30insG ENSP00000513244.1:n.1398-31_1398-30insG
ENST00000697310.1:c.1398-31_1398-30insG ENSP00000513245.1:n.1398-31_1398-30insG
ENST00000697311.1:c.1398-31_1398-30insG ENSP00000513246.1:n.1398-31_1398-30insG
ENST00000697312.1:c.*796-31_*796-30insG ENSP00000513247.1:n.*796-31_*796-30insG
ENST00000697313.1:n.2687+16642_2687+16643insG
ENST00000697314.1:n.3189-31_3189-30insG
ENST00000697315.1:c.1398-31_1398-30insG ENSP00000513248.1:n.1398-31_1398-30insG
ENST00000697316.1:n.1519-31_1519-30insG
ENST00000697317.1:n.1508-31_1508-30insG
ENST00000697318.1:n.1510-31_1510-30insG
ENST00000265433.8:c.1398-31_1398-30insG MANE Select ENSP00000265433.4:n.1398-31_1398-30insG
ENST00000265433.7:c.1398-31_1398-30insG ENSP00000265433.3:n.1398-31_1398-30insG
ENST00000396252.6:c.*1271-31_*1271-30insG ENSP00000379551.2:n.*1271-31_*1271-30insG
ENST00000409330.5:c.1152-31_1152-30insG ENSP00000386924.1:n.1152-31_1152-30insG
NM_001024688.2:c.1152-31_1152-30insG NP_001019859.1:n.1152-31_1152-30insG
NM_002485.4:c.1398-31_1398-30insG , LRG_158t1:c.1398-31_1398-30insG NP_002476.2:n.1398-31_1398-30insG
XM_011517044.1:c.1374-31_1374-30insG XP_011515346.1:n.1374-31_1374-30insG
XM_011517045.1:c.1152-31_1152-30insG XP_011515347.1:n.1152-31_1152-30insG
XM_011517046.1:c.1396-28_1396-27insG XP_011515348.1:n.1396-28_1396-27insG
XR_928335.1:n.1534-28_1534-27insG
XM_017013460.1:c.519-31_519-30insG XP_016868949.1:n.519-31_519-30insG
XM_017013462.2:c.519-31_519-30insG XP_016868951.1:n.519-31_519-30insG
XM_024447163.1:c.1152-31_1152-30insG XP_024302931.1:n.1152-31_1152-30insG
XM_024447164.1:c.1152-31_1152-30insG XP_024302932.1:n.1152-31_1152-30insG
XM_024447165.1:c.519-31_519-30insG XP_024302933.1:n.519-31_519-30insG
NM_002485.5:c.1398-31_1398-30insG MANE Select NP_002476.2:n.1398-31_1398-30insG
NM_001024688.3:c.1152-31_1152-30insG NP_001019859.1:n.1152-31_1152-30insG