Canonical Allele Identifier: CA371658809
Community Standard Title: NM_002485.5(NBN):c.742G>T (p.Glu248Ter)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89970518C>A , CM000670.2:g.89970518C>A GRCh38
NC_000008.10:g.90982746C>A , CM000670.1:g.90982746C>A GRCh37
NC_000008.9:g.91051922C>A NCBI36
NG_008860.1:g.19154G>T , LRG_158:g.19154G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.742G>T MANE Select NP_002476.2:p.Glu248Ter
ENST00000265433.8:c.742G>T MANE Select ENSP00000265433.4:p.Glu248Ter
NM_001024688.2:c.496G>T NP_001019859.1:p.Glu166Ter
NM_001024688.3:c.496G>T NP_001019859.1:p.Glu166Ter
NM_002485.4:c.742G>T , LRG_158t1:c.742G>T NP_002476.2:p.Glu248Ter
ENST00000265433.7:c.742G>T ENSP00000265433.3:p.Glu248Ter
ENST00000396252.6:c.*615G>T ENSP00000379551.2:n.*615G>T
ENST00000409330.5:c.496G>T ENSP00000386924.1:p.Glu166Ter
ENST00000494804.2:n.2044G>T
ENST00000517337.2:c.496G>T ENSP00000429971.2:p.Glu166Ter
ENST00000523444.2:c.496G>T ENSP00000428252.2:p.Glu166Ter
ENST00000697292.1:c.742G>T ENSP00000513229.1:p.Glu248Ter
ENST00000697293.1:c.742G>T ENSP00000513230.1:p.Glu248Ter
ENST00000697294.1:c.*353G>T ENSP00000513231.1:n.*353G>T
ENST00000697295.1:c.*51G>T ENSP00000513232.1:n.*51G>T
ENST00000697296.1:c.*410G>T ENSP00000513233.1:n.*410G>T
ENST00000697297.1:n.2527G>T
ENST00000697298.1:c.496G>T ENSP00000513234.1:p.Glu166Ter
ENST00000697299.1:c.496G>T ENSP00000513235.1:p.Glu166Ter
ENST00000697300.1:c.*346G>T ENSP00000513236.1:n.*346G>T
ENST00000697301.1:c.*263G>T ENSP00000513237.1:n.*263G>T
ENST00000697302.1:c.*263G>T ENSP00000513238.1:n.*263G>T
ENST00000697303.1:c.*346G>T ENSP00000513239.1:n.*346G>T
ENST00000697304.1:c.585-6011G>T ENSP00000513240.1:n.585-6011G>T
ENST00000697306.1:c.480+10216G>T ENSP00000513241.1:n.480+10216G>T
ENST00000697307.1:c.742G>T ENSP00000513242.1:p.Glu248Ter
ENST00000697308.1:c.742G>T ENSP00000513243.1:p.Glu248Ter
ENST00000697309.1:c.742G>T ENSP00000513244.1:p.Glu248Ter
ENST00000697310.1:c.742G>T ENSP00000513245.1:p.Glu248Ter
ENST00000697311.1:c.742G>T ENSP00000513246.1:p.Glu248Ter
ENST00000697312.1:c.*140G>T ENSP00000513247.1:n.*140G>T
ENST00000697313.1:n.2533G>T
ENST00000697314.1:n.2533G>T
ENST00000697315.1:c.742G>T ENSP00000513248.1:p.Glu248Ter
ENST00000697316.1:n.863G>T
ENST00000697317.1:n.852G>T
ENST00000697318.1:n.854G>T
XM_011517044.1:c.718G>T XP_011515346.1:p.Glu240Ter
XM_011517045.1:c.496G>T XP_011515347.1:p.Glu166Ter
XM_011517046.1:c.742G>T XP_011515348.1:p.Glu248Ter
XM_017013460.1:c.-138G>T XP_016868949.1:n.-138G>T
XM_017013462.2:c.-138G>T XP_016868951.1:n.-138G>T
XM_024447163.1:c.496G>T XP_024302931.1:p.Glu166Ter
XM_024447164.1:c.496G>T XP_024302932.1:p.Glu166Ter
XM_024447165.1:c.-138G>T XP_024302933.1:n.-138G>T
XR_928335.1:n.879G>T