Canonical Allele Identifier: CA1801505457

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970423_89970424delinsCT , CM000670.2:g.89970423_89970424delinsCT	GRCh38
NC_000008.10:g.90982651_90982652delinsCT , CM000670.1:g.90982651_90982652delinsCT	GRCh37
NC_000008.9:g.91051827_91051828delinsCT	NCBI36
NG_008860.1:g.19248_19249delinsAG , LRG_158:g.19248_19249delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2138_2139delinsAG
ENST00000517337.2:c.590_591delinsAG	ENSP00000429971.2:p.Gln197=
ENST00000523444.2:c.590_591delinsAG	ENSP00000428252.2:p.Gln197=
ENST00000697292.1:c.836_837delinsAG	ENSP00000513229.1:p.Gln279=
ENST00000697293.1:c.836_837delinsAG	ENSP00000513230.1:p.Gln279=
ENST00000697294.1:c.*447_*448delinsAG	ENSP00000513231.1:n.*447_*448delinsAG
ENST00000697295.1:c.*145_*146delinsAG	ENSP00000513232.1:n.*145_*146delinsAG
ENST00000697296.1:c.*504_*505delinsAG	ENSP00000513233.1:n.*504_*505delinsAG
ENST00000697297.1:n.2621_2622delinsAG
ENST00000697298.1:c.590_591delinsAG	ENSP00000513234.1:p.Gln197=
ENST00000697299.1:c.590_591delinsAG	ENSP00000513235.1:p.Gln197=
ENST00000697300.1:c.*440_*441delinsAG	ENSP00000513236.1:n.*440_*441delinsAG
ENST00000697301.1:c.*357_*358delinsAG	ENSP00000513237.1:n.*357_*358delinsAG
ENST00000697302.1:c.*357_*358delinsAG	ENSP00000513238.1:n.*357_*358delinsAG
ENST00000697303.1:c.*440_*441delinsAG	ENSP00000513239.1:n.*440_*441delinsAG
ENST00000697304.1:c.585-5917_585-5916delinsAG	ENSP00000513240.1:n.585-5917_585-5916delinsAG
ENST00000697306.1:c.480+10310_480+10311delinsAG	ENSP00000513241.1:n.480+10310_480+10311delinsAG
ENST00000697307.1:c.836_837delinsAG	ENSP00000513242.1:p.Gln279=
ENST00000697308.1:c.836_837delinsAG	ENSP00000513243.1:p.Gln279=
ENST00000697309.1:c.836_837delinsAG	ENSP00000513244.1:p.Gln279=
ENST00000697310.1:c.836_837delinsAG	ENSP00000513245.1:p.Gln279=
ENST00000697311.1:c.836_837delinsAG	ENSP00000513246.1:p.Gln279=
ENST00000697312.1:c.*234_*235delinsAG	ENSP00000513247.1:n.*234_*235delinsAG
ENST00000697313.1:n.2627_2628delinsAG
ENST00000697314.1:n.2627_2628delinsAG
ENST00000697315.1:c.836_837delinsAG	ENSP00000513248.1:p.Gln279=
ENST00000697316.1:n.957_958delinsAG
ENST00000697317.1:n.946_947delinsAG
ENST00000697318.1:n.948_949delinsAG
ENST00000265433.8:c.836_837delinsAG MANE Select	ENSP00000265433.4:p.Gln279=
ENST00000265433.7:c.836_837delinsAG	ENSP00000265433.3:p.Gln279=
ENST00000396252.6:c.*709_*710delinsAG	ENSP00000379551.2:n.*709_*710delinsAG
ENST00000409330.5:c.590_591delinsAG	ENSP00000386924.1:p.Gln197=
NM_001024688.2:c.590_591delinsAG	NP_001019859.1:p.Gln197=
NM_002485.4:c.836_837delinsAG , LRG_158t1:c.836_837delinsAG	NP_002476.2:p.Gln279=
XM_011517044.1:c.812_813delinsAG	XP_011515346.1:p.Gln271=
XM_011517045.1:c.590_591delinsAG	XP_011515347.1:p.Gln197=
XM_011517046.1:c.836_837delinsAG	XP_011515348.1:p.Gln279=
XR_928335.1:n.973_974delinsAG
XM_017013460.1:c.-44_-43delinsAG	XP_016868949.1:n.-44_-43delinsAG
XM_017013462.2:c.-44_-43delinsAG	XP_016868951.1:n.-44_-43delinsAG
XM_024447163.1:c.590_591delinsAG	XP_024302931.1:p.Gln197=
XM_024447164.1:c.590_591delinsAG	XP_024302932.1:p.Gln197=
XM_024447165.1:c.-44_-43delinsAG	XP_024302933.1:n.-44_-43delinsAG
NM_002485.5:c.836_837delinsAG MANE Select	NP_002476.2:p.Gln279=
NM_001024688.3:c.590_591delinsAG	NP_001019859.1:p.Gln197=