Canonical Allele Identifier: CA915945796

Gene: NBN

Linked Data

• ClinVar Variation Id: 825802
• ClinVar RCV Id: RCV001024219
• dbSNP Id: rs1586101198

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978236_89978252dup , CM000670.2:g.89978236_89978252dup	GRCh38
NC_000008.10:g.90990464_90990480dup , CM000670.1:g.90990464_90990480dup	GRCh37
NC_000008.9:g.91059640_91059656dup	NCBI36
NG_008860.1:g.11420_11436dup , LRG_158:g.11420_11436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1854_1870dup
ENST00000517337.2:c.306_322dup	ENSP00000429971.2:p.Pro108LeufsTer?
ENST00000523444.2:c.306_322dup	ENSP00000428252.2:p.Pro108LeufsTer?
ENST00000697292.1:c.552_568dup	ENSP00000513229.1:p.Pro190LeufsTer?
ENST00000697293.1:c.552_568dup	ENSP00000513230.1:p.Pro190LeufsTer?
ENST00000697294.1:c.*163_*179dup	ENSP00000513231.1:n.*163_*179dup
ENST00000697295.1:c.37+6273_37+6289dup	ENSP00000513232.1:n.37+6273_37+6289dup
ENST00000697296.1:c.*220_*236dup	ENSP00000513233.1:n.*220_*236dup
ENST00000697297.1:n.2337_2353dup
ENST00000697298.1:c.306_322dup	ENSP00000513234.1:p.Pro108LeufsTer?
ENST00000697299.1:c.306_322dup	ENSP00000513235.1:p.Pro108LeufsTer?
ENST00000697300.1:c.*156_*172dup	ENSP00000513236.1:n.*156_*172dup
ENST00000697301.1:c.*73_*89dup	ENSP00000513237.1:n.*73_*89dup
ENST00000697302.1:c.*73_*89dup	ENSP00000513238.1:n.*73_*89dup
ENST00000697303.1:c.*156_*172dup	ENSP00000513239.1:n.*156_*172dup
ENST00000697304.1:c.552_568dup	ENSP00000513240.1:p.Pro190LeufsTer27
ENST00000697306.1:c.480+2482_480+2498dup	ENSP00000513241.1:n.480+2482_480+2498dup
ENST00000697307.1:c.552_568dup	ENSP00000513242.1:p.Pro190LeufsTer?
ENST00000697308.1:c.552_568dup	ENSP00000513243.1:p.Pro190LeufsTer?
ENST00000697309.1:c.552_568dup	ENSP00000513244.1:p.Pro190LeufsTer?
ENST00000697310.1:c.552_568dup	ENSP00000513245.1:p.Pro190LeufsTer?
ENST00000697311.1:c.552_568dup	ENSP00000513246.1:p.Pro190LeufsTer?
ENST00000697312.1:c.480+2482_480+2498dup	ENSP00000513247.1:n.480+2482_480+2498dup
ENST00000697313.1:n.2343_2359dup
ENST00000697314.1:n.2343_2359dup
ENST00000697315.1:c.552_568dup	ENSP00000513248.1:p.Pro190LeufsTer?
ENST00000697316.1:n.673_689dup
ENST00000697317.1:n.662_678dup
ENST00000697318.1:n.664_680dup
ENST00000265433.8:c.552_568dup MANE Select	ENSP00000265433.4:p.Pro190LeufsTer?
ENST00000265433.7:c.552_568dup	ENSP00000265433.3:p.Pro190LeufsTer?
ENST00000396252.6:c.*425_*441dup	ENSP00000379551.2:n.*425_*441dup
ENST00000409330.5:c.306_322dup	ENSP00000386924.1:p.Pro108LeufsTer?
ENST00000517772.5:c.306_322dup	ENSP00000428717.1:p.Pro108LeufsTer?
ENST00000519426.5:c.320+3123_320+3139dup	ENSP00000430983.1:n.320+3123_320+3139dup
NM_001024688.2:c.306_322dup	NP_001019859.1:p.Pro108LeufsTer?
NM_002485.4:c.552_568dup , LRG_158t1:c.552_568dup	NP_002476.2:p.Pro190LeufsTer?
XM_011517044.1:c.528_544dup	XP_011515346.1:p.Pro182LeufsTer?
XM_011517045.1:c.306_322dup	XP_011515347.1:p.Pro108LeufsTer?
XM_011517046.1:c.552_568dup	XP_011515348.1:p.Pro190LeufsTer?
XR_928335.1:n.689_705dup
XM_017013460.1:c.-328_-312dup	XP_016868949.1:n.-328_-312dup
XM_017013462.2:c.-296+2482_-296+2498dup	XP_016868951.1:n.-296+2482_-296+2498dup
XM_024447163.1:c.306_322dup	XP_024302931.1:p.Pro108LeufsTer?
XM_024447164.1:c.306_322dup	XP_024302932.1:p.Pro108LeufsTer?
XM_024447165.1:c.-328_-312dup	XP_024302933.1:n.-328_-312dup
NM_002485.5:c.552_568dup MANE Select	NP_002476.2:p.Pro190LeufsTer?
NM_001024688.3:c.306_322dup	NP_001019859.1:p.Pro108LeufsTer?