Canonical Allele Identifier: CA1801505718

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970456_89970457delinsCG , CM000670.2:g.89970456_89970457delinsCG	GRCh38
NC_000008.10:g.90982684_90982685delinsCG , CM000670.1:g.90982684_90982685delinsCG	GRCh37
NC_000008.9:g.91051860_91051861delinsCG	NCBI36
NG_008860.1:g.19215_19216delinsCG , LRG_158:g.19215_19216delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2105_2106delinsCG
ENST00000517337.2:c.557_558delinsCG	ENSP00000429971.2:p.Thr186=
ENST00000523444.2:c.557_558delinsCG	ENSP00000428252.2:p.Thr186=
ENST00000697292.1:c.803_804delinsCG	ENSP00000513229.1:p.Thr268=
ENST00000697293.1:c.803_804delinsCG	ENSP00000513230.1:p.Thr268=
ENST00000697294.1:c.*414_*415delinsCG	ENSP00000513231.1:n.*414_*415delinsCG
ENST00000697295.1:c.*112_*113delinsCG	ENSP00000513232.1:n.*112_*113delinsCG
ENST00000697296.1:c.*471_*472delinsCG	ENSP00000513233.1:n.*471_*472delinsCG
ENST00000697297.1:n.2588_2589delinsCG
ENST00000697298.1:c.557_558delinsCG	ENSP00000513234.1:p.Thr186=
ENST00000697299.1:c.557_558delinsCG	ENSP00000513235.1:p.Thr186=
ENST00000697300.1:c.*407_*408delinsCG	ENSP00000513236.1:n.*407_*408delinsCG
ENST00000697301.1:c.*324_*325delinsCG	ENSP00000513237.1:n.*324_*325delinsCG
ENST00000697302.1:c.*324_*325delinsCG	ENSP00000513238.1:n.*324_*325delinsCG
ENST00000697303.1:c.*407_*408delinsCG	ENSP00000513239.1:n.*407_*408delinsCG
ENST00000697304.1:c.585-5950_585-5949delinsCG	ENSP00000513240.1:n.585-5950_585-5949delinsCG
ENST00000697306.1:c.480+10277_480+10278delinsCG	ENSP00000513241.1:n.480+10277_480+10278delinsCG
ENST00000697307.1:c.803_804delinsCG	ENSP00000513242.1:p.Thr268=
ENST00000697308.1:c.803_804delinsCG	ENSP00000513243.1:p.Thr268=
ENST00000697309.1:c.803_804delinsCG	ENSP00000513244.1:p.Thr268=
ENST00000697310.1:c.803_804delinsCG	ENSP00000513245.1:p.Thr268=
ENST00000697311.1:c.803_804delinsCG	ENSP00000513246.1:p.Thr268=
ENST00000697312.1:c.*201_*202delinsCG	ENSP00000513247.1:n.*201_*202delinsCG
ENST00000697313.1:n.2594_2595delinsCG
ENST00000697314.1:n.2594_2595delinsCG
ENST00000697315.1:c.803_804delinsCG	ENSP00000513248.1:p.Thr268=
ENST00000697316.1:n.924_925delinsCG
ENST00000697317.1:n.913_914delinsCG
ENST00000697318.1:n.915_916delinsCG
ENST00000265433.8:c.803_804delinsCG MANE Select	ENSP00000265433.4:p.Thr268=
ENST00000265433.7:c.803_804delinsCG	ENSP00000265433.3:p.Thr268=
ENST00000396252.6:c.*676_*677delinsCG	ENSP00000379551.2:n.*676_*677delinsCG
ENST00000409330.5:c.557_558delinsCG	ENSP00000386924.1:p.Thr186=
NM_001024688.2:c.557_558delinsCG	NP_001019859.1:p.Thr186=
NM_002485.4:c.803_804delinsCG , LRG_158t1:c.803_804delinsCG	NP_002476.2:p.Thr268=
XM_011517044.1:c.779_780delinsCG	XP_011515346.1:p.Thr260=
XM_011517045.1:c.557_558delinsCG	XP_011515347.1:p.Thr186=
XM_011517046.1:c.803_804delinsCG	XP_011515348.1:p.Thr268=
XR_928335.1:n.940_941delinsCG
XM_017013460.1:c.-77_-76delinsCG	XP_016868949.1:n.-77_-76delinsCG
XM_017013462.2:c.-77_-76delinsCG	XP_016868951.1:n.-77_-76delinsCG
XM_024447163.1:c.557_558delinsCG	XP_024302931.1:p.Thr186=
XM_024447164.1:c.557_558delinsCG	XP_024302932.1:p.Thr186=
XM_024447165.1:c.-77_-76delinsCG	XP_024302933.1:n.-77_-76delinsCG
NM_002485.5:c.803_804delinsCG MANE Select	NP_002476.2:p.Thr268=
NM_001024688.3:c.557_558delinsCG	NP_001019859.1:p.Thr186=