Canonical Allele Identifier: CA1801505570

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970432_89970433delinsTG , CM000670.2:g.89970432_89970433delinsTG	GRCh38
NC_000008.10:g.90982660_90982661delinsTG , CM000670.1:g.90982660_90982661delinsTG	GRCh37
NC_000008.9:g.91051836_91051837delinsTG	NCBI36
NG_008860.1:g.19239_19240delinsCA , LRG_158:g.19239_19240delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2129_2130delinsCA
ENST00000517337.2:c.581_582delinsCA	ENSP00000429971.2:p.Thr194=
ENST00000523444.2:c.581_582delinsCA	ENSP00000428252.2:p.Thr194=
ENST00000697292.1:c.827_828delinsCA	ENSP00000513229.1:p.Thr276=
ENST00000697293.1:c.827_828delinsCA	ENSP00000513230.1:p.Thr276=
ENST00000697294.1:c.*438_*439delinsCA	ENSP00000513231.1:n.*438_*439delinsCA
ENST00000697295.1:c.*136_*137delinsCA	ENSP00000513232.1:n.*136_*137delinsCA
ENST00000697296.1:c.*495_*496delinsCA	ENSP00000513233.1:n.*495_*496delinsCA
ENST00000697297.1:n.2612_2613delinsCA
ENST00000697298.1:c.581_582delinsCA	ENSP00000513234.1:p.Thr194=
ENST00000697299.1:c.581_582delinsCA	ENSP00000513235.1:p.Thr194=
ENST00000697300.1:c.*431_*432delinsCA	ENSP00000513236.1:n.*431_*432delinsCA
ENST00000697301.1:c.*348_*349delinsCA	ENSP00000513237.1:n.*348_*349delinsCA
ENST00000697302.1:c.*348_*349delinsCA	ENSP00000513238.1:n.*348_*349delinsCA
ENST00000697303.1:c.*431_*432delinsCA	ENSP00000513239.1:n.*431_*432delinsCA
ENST00000697304.1:c.585-5926_585-5925delinsCA	ENSP00000513240.1:n.585-5926_585-5925delinsCA
ENST00000697306.1:c.480+10301_480+10302delinsCA	ENSP00000513241.1:n.480+10301_480+10302delinsCA
ENST00000697307.1:c.827_828delinsCA	ENSP00000513242.1:p.Thr276=
ENST00000697308.1:c.827_828delinsCA	ENSP00000513243.1:p.Thr276=
ENST00000697309.1:c.827_828delinsCA	ENSP00000513244.1:p.Thr276=
ENST00000697310.1:c.827_828delinsCA	ENSP00000513245.1:p.Thr276=
ENST00000697311.1:c.827_828delinsCA	ENSP00000513246.1:p.Thr276=
ENST00000697312.1:c.*225_*226delinsCA	ENSP00000513247.1:n.*225_*226delinsCA
ENST00000697313.1:n.2618_2619delinsCA
ENST00000697314.1:n.2618_2619delinsCA
ENST00000697315.1:c.827_828delinsCA	ENSP00000513248.1:p.Thr276=
ENST00000697316.1:n.948_949delinsCA
ENST00000697317.1:n.937_938delinsCA
ENST00000697318.1:n.939_940delinsCA
ENST00000265433.8:c.827_828delinsCA MANE Select	ENSP00000265433.4:p.Thr276=
ENST00000265433.7:c.827_828delinsCA	ENSP00000265433.3:p.Thr276=
ENST00000396252.6:c.*700_*701delinsCA	ENSP00000379551.2:n.*700_*701delinsCA
ENST00000409330.5:c.581_582delinsCA	ENSP00000386924.1:p.Thr194=
NM_001024688.2:c.581_582delinsCA	NP_001019859.1:p.Thr194=
NM_002485.4:c.827_828delinsCA , LRG_158t1:c.827_828delinsCA	NP_002476.2:p.Thr276=
XM_011517044.1:c.803_804delinsCA	XP_011515346.1:p.Thr268=
XM_011517045.1:c.581_582delinsCA	XP_011515347.1:p.Thr194=
XM_011517046.1:c.827_828delinsCA	XP_011515348.1:p.Thr276=
XR_928335.1:n.964_965delinsCA
XM_017013460.1:c.-53_-52delinsCA	XP_016868949.1:n.-53_-52delinsCA
XM_017013462.2:c.-53_-52delinsCA	XP_016868951.1:n.-53_-52delinsCA
XM_024447163.1:c.581_582delinsCA	XP_024302931.1:p.Thr194=
XM_024447164.1:c.581_582delinsCA	XP_024302932.1:p.Thr194=
XM_024447165.1:c.-53_-52delinsCA	XP_024302933.1:n.-53_-52delinsCA
NM_002485.5:c.827_828delinsCA MANE Select	NP_002476.2:p.Thr276=
NM_001024688.3:c.581_582delinsCA	NP_001019859.1:p.Thr194=