Canonical Allele Identifier: CA2580079048

Gene: NBN

Linked Data

• ClinVar Variation Id: 1781622
• ClinVar RCV Id: RCV002415039

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947871dup , CM000670.2:g.89947871dup	GRCh38
NC_000008.10:g.90960099dup , CM000670.1:g.90960099dup	GRCh37
NC_000008.9:g.91029275dup	NCBI36
NG_008860.1:g.41803dup , LRG_158:g.41803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3171dup
ENST00000517337.2:c.1623dup	ENSP00000429971.2:p.Arg542ThrfsTer2
ENST00000523444.2:c.1623dup	ENSP00000428252.2:p.Arg542ThrfsTer2
ENST00000697292.1:c.1869dup	ENSP00000513229.1:p.Arg624ThrfsTer2
ENST00000697293.1:c.1869dup	ENSP00000513230.1:p.Arg624ThrfsTer2
ENST00000697294.1:c.*1480dup	ENSP00000513231.1:n.*1480dup
ENST00000697295.1:c.*1178dup	ENSP00000513232.1:n.*1178dup
ENST00000697296.1:c.*1537dup	ENSP00000513233.1:n.*1537dup
ENST00000697297.1:n.3654dup
ENST00000697298.1:c.1623dup	ENSP00000513234.1:p.Arg542ThrfsTer2
ENST00000697299.1:c.1623dup	ENSP00000513235.1:p.Arg542ThrfsTer2
ENST00000697300.1:c.*1473dup	ENSP00000513236.1:n.*1473dup
ENST00000697301.1:c.*1390dup	ENSP00000513237.1:n.*1390dup
ENST00000697302.1:c.*1390dup	ENSP00000513238.1:n.*1390dup
ENST00000697303.1:c.*1473dup	ENSP00000513239.1:n.*1473dup
ENST00000697304.1:c.1557dup	ENSP00000513240.1:p.Arg520ThrfsTer2
ENST00000697306.1:c.*892dup	ENSP00000513241.1:n.*892dup
ENST00000697307.1:c.1846-4503dup	ENSP00000513242.1:n.1846-4503dup
ENST00000697308.1:c.1846-1574dup	ENSP00000513243.1:n.1846-1574dup
ENST00000697309.1:c.1869dup	ENSP00000513244.1:p.Arg624ThrfsTer2
ENST00000697310.1:c.1869dup	ENSP00000513245.1:p.Arg624ThrfsTer2
ENST00000697311.1:c.1869dup	ENSP00000513246.1:p.Arg624ThrfsTer2
ENST00000697312.1:c.*1267dup	ENSP00000513247.1:n.*1267dup
ENST00000697313.1:n.2688-12257dup
ENST00000697314.1:n.3636+5375dup
ENST00000697315.1:c.1869dup	ENSP00000513248.1:p.Arg624ThrfsTer2
ENST00000697316.1:n.1990dup
ENST00000697317.1:n.1979dup
ENST00000265433.8:c.1869dup MANE Select	ENSP00000265433.4:p.Arg624ThrfsTer2
ENST00000265433.7:c.1869dup	ENSP00000265433.3:p.Arg624ThrfsTer2
ENST00000396252.6:c.*1742dup	ENSP00000379551.2:n.*1742dup
ENST00000409330.5:c.1623dup	ENSP00000386924.1:p.Arg542ThrfsTer2
ENST00000613033.1:c.135dup	ENSP00000484487.1:p.Arg46ThrfsTer2
NM_001024688.2:c.1623dup	NP_001019859.1:p.Arg542ThrfsTer2
NM_002485.4:c.1869dup , LRG_158t1:c.1869dup	NP_002476.2:p.Arg624ThrfsTer2
XM_011517044.1:c.1845dup	XP_011515346.1:p.Arg616ThrfsTer2
XM_011517045.1:c.1623dup	XP_011515347.1:p.Arg542ThrfsTer2
XR_928335.1:n.2008dup
XM_017013460.1:c.990dup	XP_016868949.1:p.Arg331ThrfsTer2
XM_017013462.2:c.990dup	XP_016868951.1:p.Arg331ThrfsTer2
XM_024447163.1:c.1623dup	XP_024302931.1:p.Arg542ThrfsTer2
XM_024447164.1:c.1623dup	XP_024302932.1:p.Arg542ThrfsTer2
XM_024447165.1:c.990dup	XP_024302933.1:p.Arg331ThrfsTer2
NM_002485.5:c.1869dup MANE Select	NP_002476.2:p.Arg624ThrfsTer2
NM_001024688.3:c.1623dup	NP_001019859.1:p.Arg542ThrfsTer2