Canonical Allele Identifier: CA2573143439

Gene: NBN

Linked Data

• ClinVar Variation Id: 1584205
• ClinVar RCV Id: RCV002100315
• dbSNP Id: rs2129836999

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971156_89971157delinsTT , CM000670.2:g.89971156_89971157delinsTT	GRCh38
NC_000008.10:g.90983384_90983385delinsTT , CM000670.1:g.90983384_90983385delinsTT	GRCh37
NC_000008.9:g.91052560_91052561delinsTT	NCBI36
NG_008860.1:g.18515_18516delinsAA , LRG_158:g.18515_18516delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2004+16_2004+17delinsAA
ENST00000517337.2:c.456+16_456+17delinsAA	ENSP00000429971.2:n.456+16_456+17delinsAA
ENST00000523444.2:c.456+16_456+17delinsAA	ENSP00000428252.2:n.456+16_456+17delinsAA
ENST00000697292.1:c.702+16_702+17delinsAA	ENSP00000513229.1:n.702+16_702+17delinsAA
ENST00000697293.1:c.702+16_702+17delinsAA	ENSP00000513230.1:n.702+16_702+17delinsAA
ENST00000697294.1:c.*313+16_*313+17delinsAA	ENSP00000513231.1:n.*313+16_*313+17delinsAA
ENST00000697295.1:c.*11+16_*11+17delinsAA	ENSP00000513232.1:n.*11+16_*11+17delinsAA
ENST00000697296.1:c.*370+16_*370+17delinsAA	ENSP00000513233.1:n.*370+16_*370+17delinsAA
ENST00000697297.1:n.2487+16_2487+17delinsAA
ENST00000697298.1:c.456+16_456+17delinsAA	ENSP00000513234.1:n.456+16_456+17delinsAA
ENST00000697299.1:c.456+16_456+17delinsAA	ENSP00000513235.1:n.456+16_456+17delinsAA
ENST00000697300.1:c.*306+16_*306+17delinsAA	ENSP00000513236.1:n.*306+16_*306+17delinsAA
ENST00000697301.1:c.*223+16_*223+17delinsAA	ENSP00000513237.1:n.*223+16_*223+17delinsAA
ENST00000697302.1:c.*223+16_*223+17delinsAA	ENSP00000513238.1:n.*223+16_*223+17delinsAA
ENST00000697303.1:c.*306+16_*306+17delinsAA	ENSP00000513239.1:n.*306+16_*306+17delinsAA
ENST00000697304.1:c.585-6650_585-6649delinsAA	ENSP00000513240.1:n.585-6650_585-6649delinsAA
ENST00000697306.1:c.480+9577_480+9578delinsAA	ENSP00000513241.1:n.480+9577_480+9578delinsAA
ENST00000697307.1:c.702+16_702+17delinsAA	ENSP00000513242.1:n.702+16_702+17delinsAA
ENST00000697308.1:c.702+16_702+17delinsAA	ENSP00000513243.1:n.702+16_702+17delinsAA
ENST00000697309.1:c.702+16_702+17delinsAA	ENSP00000513244.1:n.702+16_702+17delinsAA
ENST00000697310.1:c.702+16_702+17delinsAA	ENSP00000513245.1:n.702+16_702+17delinsAA
ENST00000697311.1:c.702+16_702+17delinsAA	ENSP00000513246.1:n.702+16_702+17delinsAA
ENST00000697312.1:c.*100+16_*100+17delinsAA	ENSP00000513247.1:n.*100+16_*100+17delinsAA
ENST00000697313.1:n.2493+16_2493+17delinsAA
ENST00000697314.1:n.2493+16_2493+17delinsAA
ENST00000697315.1:c.702+16_702+17delinsAA	ENSP00000513248.1:n.702+16_702+17delinsAA
ENST00000697316.1:n.823+16_823+17delinsAA
ENST00000697317.1:n.812+16_812+17delinsAA
ENST00000697318.1:n.814+16_814+17delinsAA
ENST00000265433.8:c.702+16_702+17delinsAA MANE Select	ENSP00000265433.4:n.702+16_702+17delinsAA
ENST00000265433.7:c.702+16_702+17delinsAA	ENSP00000265433.3:n.702+16_702+17delinsAA
ENST00000396252.6:c.*575+16_*575+17delinsAA	ENSP00000379551.2:n.*575+16_*575+17delinsAA
ENST00000409330.5:c.456+16_456+17delinsAA	ENSP00000386924.1:n.456+16_456+17delinsAA
ENST00000517772.5:c.456+16_456+17delinsAA	ENSP00000428717.1:n.456+16_456+17delinsAA
ENST00000519426.5:c.438+16_438+17delinsAA	ENSP00000430983.1:n.438+16_438+17delinsAA
NM_001024688.2:c.456+16_456+17delinsAA	NP_001019859.1:n.456+16_456+17delinsAA
NM_002485.4:c.702+16_702+17delinsAA , LRG_158t1:c.702+16_702+17delinsAA	NP_002476.2:n.702+16_702+17delinsAA
XM_011517044.1:c.678+16_678+17delinsAA	XP_011515346.1:n.678+16_678+17delinsAA
XM_011517045.1:c.456+16_456+17delinsAA	XP_011515347.1:n.456+16_456+17delinsAA
XM_011517046.1:c.702+16_702+17delinsAA	XP_011515348.1:n.702+16_702+17delinsAA
XR_928335.1:n.839+16_839+17delinsAA
XM_017013460.1:c.-178+16_-178+17delinsAA	XP_016868949.1:n.-178+16_-178+17delinsAA
XM_017013462.2:c.-178+16_-178+17delinsAA	XP_016868951.1:n.-178+16_-178+17delinsAA
XM_024447163.1:c.456+16_456+17delinsAA	XP_024302931.1:n.456+16_456+17delinsAA
XM_024447164.1:c.456+16_456+17delinsAA	XP_024302932.1:n.456+16_456+17delinsAA
XM_024447165.1:c.-178+16_-178+17delinsAA	XP_024302933.1:n.-178+16_-178+17delinsAA
NM_002485.5:c.702+16_702+17delinsAA MANE Select	NP_002476.2:n.702+16_702+17delinsAA
NM_001024688.3:c.456+16_456+17delinsAA	NP_001019859.1:n.456+16_456+17delinsAA