Canonical Allele Identifier: CA658657809

Gene: NBN

Linked Data

• ClinVar Variation Id: 483971
• ClinVar RCV Id: RCV000574501 ; RCV001239591
• dbSNP Id: rs1554566678

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978267_89978269delinsA , CM000670.2:g.89978267_89978269delinsA	GRCh38
NC_000008.10:g.90990495_90990497delinsA , CM000670.1:g.90990495_90990497delinsA	GRCh37
NC_000008.9:g.91059671_91059673delinsA	NCBI36
NG_008860.1:g.11403_11405delinsT , LRG_158:g.11403_11405delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1837_1839delinsT
ENST00000517337.2:c.289_291delinsT	ENSP00000429971.2:p.Glu97PhefsTer6
ENST00000523444.2:c.289_291delinsT	ENSP00000428252.2:p.Glu97PhefsTer6
ENST00000697292.1:c.535_537delinsT	ENSP00000513229.1:p.Glu179PhefsTer6
ENST00000697293.1:c.535_537delinsT	ENSP00000513230.1:p.Glu179PhefsTer6
ENST00000697294.1:c.*146_*148delinsT	ENSP00000513231.1:n.*146_*148delinsT
ENST00000697295.1:c.37+6256_37+6258delinsT	ENSP00000513232.1:n.37+6256_37+6258delinsT
ENST00000697296.1:c.*203_*205delinsT	ENSP00000513233.1:n.*203_*205delinsT
ENST00000697297.1:n.2320_2322delinsT
ENST00000697298.1:c.289_291delinsT	ENSP00000513234.1:p.Glu97PhefsTer6
ENST00000697299.1:c.289_291delinsT	ENSP00000513235.1:p.Glu97PhefsTer6
ENST00000697300.1:c.*139_*141delinsT	ENSP00000513236.1:n.*139_*141delinsT
ENST00000697301.1:c.*56_*58delinsT	ENSP00000513237.1:n.*56_*58delinsT
ENST00000697302.1:c.*56_*58delinsT	ENSP00000513238.1:n.*56_*58delinsT
ENST00000697303.1:c.*139_*141delinsT	ENSP00000513239.1:n.*139_*141delinsT
ENST00000697304.1:c.535_537delinsT	ENSP00000513240.1:p.Glu179PhefsTer6
ENST00000697306.1:c.480+2465_480+2467delinsT	ENSP00000513241.1:n.480+2465_480+2467delinsT
ENST00000697307.1:c.535_537delinsT	ENSP00000513242.1:p.Glu179PhefsTer6
ENST00000697308.1:c.535_537delinsT	ENSP00000513243.1:p.Glu179PhefsTer6
ENST00000697309.1:c.535_537delinsT	ENSP00000513244.1:p.Glu179PhefsTer6
ENST00000697310.1:c.535_537delinsT	ENSP00000513245.1:p.Glu179PhefsTer6
ENST00000697311.1:c.535_537delinsT	ENSP00000513246.1:p.Glu179PhefsTer6
ENST00000697312.1:c.480+2465_480+2467delinsT	ENSP00000513247.1:n.480+2465_480+2467delinsT
ENST00000697313.1:n.2326_2328delinsT
ENST00000697314.1:n.2326_2328delinsT
ENST00000697315.1:c.535_537delinsT	ENSP00000513248.1:p.Glu179PhefsTer6
ENST00000697316.1:n.656_658delinsT
ENST00000697317.1:n.645_647delinsT
ENST00000697318.1:n.647_649delinsT
ENST00000265433.8:c.535_537delinsT MANE Select	ENSP00000265433.4:p.Glu179PhefsTer6
ENST00000265433.7:c.535_537delinsT	ENSP00000265433.3:p.Glu179PhefsTer6
ENST00000396252.6:c.*408_*410delinsT	ENSP00000379551.2:n.*408_*410delinsT
ENST00000409330.5:c.289_291delinsT	ENSP00000386924.1:p.Glu97PhefsTer6
ENST00000517772.5:c.289_291delinsT	ENSP00000428717.1:p.Glu97PhefsTer6
ENST00000519426.5:c.320+3106_320+3108delinsT	ENSP00000430983.1:n.320+3106_320+3108delinsT
NM_001024688.2:c.289_291delinsT	NP_001019859.1:p.Glu97PhefsTer6
NM_002485.4:c.535_537delinsT , LRG_158t1:c.535_537delinsT	NP_002476.2:p.Glu179PhefsTer6
XM_011517044.1:c.511_513delinsT	XP_011515346.1:p.Glu171PhefsTer6
XM_011517045.1:c.289_291delinsT	XP_011515347.1:p.Glu97PhefsTer6
XM_011517046.1:c.535_537delinsT	XP_011515348.1:p.Glu179PhefsTer6
XR_928335.1:n.672_674delinsT
XM_017013460.1:c.-345_-343delinsT	XP_016868949.1:n.-345_-343delinsT
XM_017013462.2:c.-296+2465_-296+2467delinsT	XP_016868951.1:n.-296+2465_-296+2467delinsT
XM_024447163.1:c.289_291delinsT	XP_024302931.1:p.Glu97PhefsTer6
XM_024447164.1:c.289_291delinsT	XP_024302932.1:p.Glu97PhefsTer6
XM_024447165.1:c.-345_-343delinsT	XP_024302933.1:n.-345_-343delinsT
NM_002485.5:c.535_537delinsT MANE Select	NP_002476.2:p.Glu179PhefsTer6
NM_001024688.3:c.289_291delinsT	NP_001019859.1:p.Glu97PhefsTer6