Canonical Allele Identifier: CA2580079006

Gene: NBN

Linked Data

• ClinVar Variation Id: 1726677
• ClinVar RCV Id: RCV002310361

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953399_89953400del , CM000670.2:g.89953399_89953400del	GRCh38
NC_000008.10:g.90965627_90965628del , CM000670.1:g.90965627_90965628del	GRCh37
NC_000008.9:g.91034803_91034804del	NCBI36
NG_008860.1:g.36272_36273del , LRG_158:g.36272_36273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2991_2992del
ENST00000517337.2:c.1443_1444del	ENSP00000429971.2:p.Glu482ThrfsTer13
ENST00000523444.2:c.1443_1444del	ENSP00000428252.2:p.Glu482ThrfsTer13
ENST00000697292.1:c.1689_1690del	ENSP00000513229.1:p.Glu564ThrfsTer13
ENST00000697293.1:c.1689_1690del	ENSP00000513230.1:p.Glu564ThrfsTer13
ENST00000697294.1:c.*1300_*1301del	ENSP00000513231.1:n.*1300_*1301del
ENST00000697295.1:c.*998_*999del	ENSP00000513232.1:n.*998_*999del
ENST00000697296.1:c.*1357_*1358del	ENSP00000513233.1:n.*1357_*1358del
ENST00000697297.1:n.3474_3475del
ENST00000697298.1:c.1443_1444del	ENSP00000513234.1:p.Glu482ThrfsTer13
ENST00000697299.1:c.1443_1444del	ENSP00000513235.1:p.Glu482ThrfsTer13
ENST00000697300.1:c.*1293_*1294del	ENSP00000513236.1:n.*1293_*1294del
ENST00000697301.1:c.*1210_*1211del	ENSP00000513237.1:n.*1210_*1211del
ENST00000697302.1:c.*1210_*1211del	ENSP00000513238.1:n.*1210_*1211del
ENST00000697303.1:c.*1293_*1294del	ENSP00000513239.1:n.*1293_*1294del
ENST00000697304.1:c.1377_1378del	ENSP00000513240.1:p.Glu460ThrfsTer13
ENST00000697306.1:c.*689_*690del	ENSP00000513241.1:n.*689_*690del
ENST00000697307.1:c.1689_1690del	ENSP00000513242.1:p.Glu564ThrfsTer13
ENST00000697308.1:c.1689_1690del	ENSP00000513243.1:p.Glu564ThrfsTer13
ENST00000697309.1:c.1689_1690del	ENSP00000513244.1:p.Glu564ThrfsTer13
ENST00000697310.1:c.1689_1690del	ENSP00000513245.1:p.Glu564ThrfsTer13
ENST00000697311.1:c.1689_1690del	ENSP00000513246.1:p.Glu564ThrfsTer13
ENST00000697312.1:c.*1087_*1088del	ENSP00000513247.1:n.*1087_*1088del
ENST00000697313.1:n.2687+16964_2687+16965del
ENST00000697314.1:n.3480_3481del
ENST00000697315.1:c.1689_1690del	ENSP00000513248.1:p.Glu564ThrfsTer13
ENST00000697316.1:n.1810_1811del
ENST00000697317.1:n.1799_1800del
ENST00000697318.1:n.1801_1802del
ENST00000265433.8:c.1689_1690del MANE Select	ENSP00000265433.4:p.Glu564ThrfsTer13
ENST00000265433.7:c.1689_1690del	ENSP00000265433.3:p.Glu564ThrfsTer13
ENST00000396252.6:c.*1562_*1563del	ENSP00000379551.2:n.*1562_*1563del
ENST00000409330.5:c.1443_1444del	ENSP00000386924.1:p.Glu482ThrfsTer13
NM_001024688.2:c.1443_1444del	NP_001019859.1:p.Glu482ThrfsTer13
NM_002485.4:c.1689_1690del , LRG_158t1:c.1689_1690del	NP_002476.2:p.Glu564ThrfsTer13
XM_011517044.1:c.1665_1666del	XP_011515346.1:p.Glu556ThrfsTer13
XM_011517045.1:c.1443_1444del	XP_011515347.1:p.Glu482ThrfsTer13
XR_928335.1:n.1828_1829del
XM_017013460.1:c.810_811del	XP_016868949.1:p.Glu271ThrfsTer13
XM_017013462.2:c.810_811del	XP_016868951.1:p.Glu271ThrfsTer13
XM_024447163.1:c.1443_1444del	XP_024302931.1:p.Glu482ThrfsTer13
XM_024447164.1:c.1443_1444del	XP_024302932.1:p.Glu482ThrfsTer13
XM_024447165.1:c.810_811del	XP_024302933.1:p.Glu271ThrfsTer13
NM_002485.5:c.1689_1690del MANE Select	NP_002476.2:p.Glu564ThrfsTer13
NM_001024688.3:c.1443_1444del	NP_001019859.1:p.Glu482ThrfsTer13