Canonical Allele Identifier: CA1801516732
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89978265_89978277delinsAATTCAGTAAAAT , CM000670.2:g.89978265_89978277delinsAATTCAGTAAAAT GRCh38
NC_000008.10:g.90990493_90990505delinsAATTCAGTAAAAT , CM000670.1:g.90990493_90990505delinsAATTCAGTAAAAT GRCh37
NC_000008.9:g.91059669_91059681delinsAATTCAGTAAAAT NCBI36
NG_008860.1:g.11395_11407delinsATTTTACTGAATT , LRG_158:g.11395_11407delinsATTTTACTGAATT

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1829_1841delinsATTTTACTGAATT
ENST00000517337.2:c.281_293delinsATTTTACTGAATT ENSP00000429971.2:p.Tyr94=
ENST00000523444.2:c.281_293delinsATTTTACTGAATT ENSP00000428252.2:p.Tyr94=
ENST00000697292.1:c.527_539delinsATTTTACTGAATT ENSP00000513229.1:p.Tyr176=
ENST00000697293.1:c.527_539delinsATTTTACTGAATT ENSP00000513230.1:p.Tyr176=
ENST00000697294.1:c.*138_*150delinsATTTTACTGAATT ENSP00000513231.1:n.*138_*150delinsATTTTA...
ENST00000697295.1:c.37+6248_37+6260delinsATTTTACTGAATT ENSP00000513232.1:n.37+6248_37+6260delins...
ENST00000697296.1:c.*195_*207delinsATTTTACTGAATT ENSP00000513233.1:n.*195_*207delinsATTTTA...
ENST00000697297.1:n.2312_2324delinsATTTTACTGAATT
ENST00000697298.1:c.281_293delinsATTTTACTGAATT ENSP00000513234.1:p.Tyr94=
ENST00000697299.1:c.281_293delinsATTTTACTGAATT ENSP00000513235.1:p.Tyr94=
ENST00000697300.1:c.*131_*143delinsATTTTACTGAATT ENSP00000513236.1:n.*131_*143delinsATTTTA...
ENST00000697301.1:c.*48_*60delinsATTTTACTGAATT ENSP00000513237.1:n.*48_*60delinsATTTTACT...
ENST00000697302.1:c.*48_*60delinsATTTTACTGAATT ENSP00000513238.1:n.*48_*60delinsATTTTACT...
ENST00000697303.1:c.*131_*143delinsATTTTACTGAATT ENSP00000513239.1:n.*131_*143delinsATTTTA...
ENST00000697304.1:c.527_539delinsATTTTACTGAATT ENSP00000513240.1:p.Tyr176=
ENST00000697306.1:c.480+2457_480+2469delinsATTTTACTGAATT ENSP00000513241.1:n.480+2457_480+2469deli...
ENST00000697307.1:c.527_539delinsATTTTACTGAATT ENSP00000513242.1:p.Tyr176=
ENST00000697308.1:c.527_539delinsATTTTACTGAATT ENSP00000513243.1:p.Tyr176=
ENST00000697309.1:c.527_539delinsATTTTACTGAATT ENSP00000513244.1:p.Tyr176=
ENST00000697310.1:c.527_539delinsATTTTACTGAATT ENSP00000513245.1:p.Tyr176=
ENST00000697311.1:c.527_539delinsATTTTACTGAATT ENSP00000513246.1:p.Tyr176=
ENST00000697312.1:c.480+2457_480+2469delinsATTTTACTGAATT ENSP00000513247.1:n.480+2457_480+2469deli...
ENST00000697313.1:n.2318_2330delinsATTTTACTGAATT
ENST00000697314.1:n.2318_2330delinsATTTTACTGAATT
ENST00000697315.1:c.527_539delinsATTTTACTGAATT ENSP00000513248.1:p.Tyr176=
ENST00000697316.1:n.648_660delinsATTTTACTGAATT
ENST00000697317.1:n.637_649delinsATTTTACTGAATT
ENST00000697318.1:n.639_651delinsATTTTACTGAATT
ENST00000265433.8:c.527_539delinsATTTTACTGAATT MANE Select ENSP00000265433.4:p.Tyr176=
ENST00000265433.7:c.527_539delinsATTTTACTGAATT ENSP00000265433.3:p.Tyr176=
ENST00000396252.6:c.*400_*412delinsATTTTACTGAATT ENSP00000379551.2:n.*400_*412delinsATTTTA...
ENST00000409330.5:c.281_293delinsATTTTACTGAATT ENSP00000386924.1:p.Tyr94=
ENST00000517772.5:c.281_293delinsATTTTACTGAATT ENSP00000428717.1:p.Tyr94=
ENST00000519426.5:c.320+3098_320+3110delinsATTTTACTGAATT ENSP00000430983.1:n.320+3098_320+3110deli...
NM_001024688.2:c.281_293delinsATTTTACTGAATT NP_001019859.1:p.Tyr94=
NM_002485.4:c.527_539delinsATTTTACTGAATT , LRG_158t1:c.527_539delinsATTTTACTGAATT NP_002476.2:p.Tyr176=
XM_011517044.1:c.503_515delinsATTTTACTGAATT XP_011515346.1:p.Tyr168=
XM_011517045.1:c.281_293delinsATTTTACTGAATT XP_011515347.1:p.Tyr94=
XM_011517046.1:c.527_539delinsATTTTACTGAATT XP_011515348.1:p.Tyr176=
XR_928335.1:n.664_676delinsATTTTACTGAATT
XM_017013460.1:c.-353_-341delinsATTTTACTGAATT XP_016868949.1:n.-353_-341delinsATTTTACTG...
XM_017013462.2:c.-296+2457_-296+2469delinsATTTTACTGAATT XP_016868951.1:n.-296+2457_-296+2469delin...
XM_024447163.1:c.281_293delinsATTTTACTGAATT XP_024302931.1:p.Tyr94=
XM_024447164.1:c.281_293delinsATTTTACTGAATT XP_024302932.1:p.Tyr94=
XM_024447165.1:c.-353_-341delinsATTTTACTGAATT XP_024302933.1:n.-353_-341delinsATTTTACTG...
NM_002485.5:c.527_539delinsATTTTACTGAATT MANE Select NP_002476.2:p.Tyr176=
NM_001024688.3:c.281_293delinsATTTTACTGAATT NP_001019859.1:p.Tyr94=