Canonical Allele Identifier: CA371662087
Community Standard Title: NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89980855A>C , CM000670.2:g.89980855A>C GRCh38
NC_000008.10:g.90993083A>C , CM000670.1:g.90993083A>C GRCh37
NC_000008.9:g.91062259A>C NCBI36
NG_008860.1:g.8817T>G , LRG_158:g.8817T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.359T>G MANE Select NP_002476.2:p.Leu120Ter
ENST00000265433.8:c.359T>G MANE Select ENSP00000265433.4:p.Leu120Ter
NM_001024688.2:c.113T>G NP_001019859.1:p.Leu38Ter
NM_001024688.3:c.113T>G NP_001019859.1:p.Leu38Ter
NM_002485.4:c.359T>G , LRG_158t1:c.359T>G NP_002476.2:p.Leu120Ter
ENST00000265433.7:c.359T>G ENSP00000265433.3:p.Leu120Ter
ENST00000396252.6:c.*232T>G ENSP00000379551.2:n.*232T>G
ENST00000409330.5:c.113T>G ENSP00000386924.1:p.Leu38Ter
ENST00000494804.2:n.1661T>G
ENST00000517337.1:c.113T>G ENSP00000429971.1:p.Leu38Ter
ENST00000517337.2:c.113T>G ENSP00000429971.2:p.Leu38Ter
ENST00000517772.5:c.113T>G ENSP00000428717.1:p.Leu38Ter
ENST00000519426.5:c.320+520T>G ENSP00000430983.1:n.320+520T>G
ENST00000523444.1:c.*194-3T>G ENSP00000428252.1:n.*194-3T>G
ENST00000523444.2:c.113T>G ENSP00000428252.2:p.Leu38Ter
ENST00000697292.1:c.359T>G ENSP00000513229.1:p.Leu120Ter
ENST00000697293.1:c.359T>G ENSP00000513230.1:p.Leu120Ter
ENST00000697294.1:c.321-3T>G ENSP00000513231.1:n.321-3T>G
ENST00000697295.1:c.37+3670T>G ENSP00000513232.1:n.37+3670T>G
ENST00000697296.1:c.*27T>G ENSP00000513233.1:n.*27T>G
ENST00000697297.1:n.2144T>G
ENST00000697298.1:c.113T>G ENSP00000513234.1:p.Leu38Ter
ENST00000697299.1:c.113T>G ENSP00000513235.1:p.Leu38Ter
ENST00000697300.1:c.113T>G ENSP00000513236.1:p.Leu38Ter
ENST00000697301.1:c.75-3T>G ENSP00000513237.1:n.75-3T>G
ENST00000697302.1:c.321-3T>G ENSP00000513238.1:n.321-3T>G
ENST00000697303.1:c.359T>G ENSP00000513239.1:p.Leu120Ter
ENST00000697304.1:c.359T>G ENSP00000513240.1:p.Leu120Ter
ENST00000697306.1:c.359T>G ENSP00000513241.1:p.Leu120Ter
ENST00000697307.1:c.359T>G ENSP00000513242.1:p.Leu120Ter
ENST00000697308.1:c.359T>G ENSP00000513243.1:p.Leu120Ter
ENST00000697309.1:c.359T>G ENSP00000513244.1:p.Leu120Ter
ENST00000697310.1:c.359T>G ENSP00000513245.1:p.Leu120Ter
ENST00000697311.1:c.359T>G ENSP00000513246.1:p.Leu120Ter
ENST00000697312.1:c.359T>G ENSP00000513247.1:p.Leu120Ter
ENST00000697313.1:n.2150T>G
ENST00000697314.1:n.2150T>G
ENST00000697315.1:c.359T>G ENSP00000513248.1:p.Leu120Ter
ENST00000697316.1:n.480T>G
ENST00000697317.1:n.469T>G
ENST00000697318.1:n.471T>G
XM_011517044.1:c.335T>G XP_011515346.1:p.Leu112Ter
XM_011517045.1:c.113T>G XP_011515347.1:p.Leu38Ter
XM_011517046.1:c.359T>G XP_011515348.1:p.Leu120Ter
XM_017013460.1:c.-611T>G XP_016868949.1:n.-611T>G
XM_017013462.2:c.-417T>G XP_016868951.1:n.-417T>G
XM_024447163.1:c.113T>G XP_024302931.1:p.Leu38Ter
XM_024447164.1:c.113T>G XP_024302932.1:p.Leu38Ter
XM_024447165.1:c.-611T>G XP_024302933.1:n.-611T>G
XR_928335.1:n.496T>G