Canonical Allele Identifier: CA915945804

Gene: NBN

Linked Data

• ClinVar Variation Id: 558568
• ClinVar RCV Id: RCV000674860
• dbSNP Id: rs1554568352

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89981480_89981481insGCTGCCCCGAGCGGTTCC , CM000670.2:g.89981480_89981481insGCTGCCCCGAGCGGTTCC	GRCh38
NC_000008.10:g.90993708_90993709insGCTGCCCCGAGCGGTTCC , CM000670.1:g.90993708_90993709insGCTGCCCCGAGCGGTTCC	GRCh37
NC_000008.9:g.91062884_91062885insGCTGCCCCGAGCGGTTCC	NCBI36
NG_008860.1:g.8191_8192insGGAACCGCTCGGGGCAGC , LRG_158:g.8191_8192insGGAACCGCTCGGGGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1516_1517insGGAACCGCTCGGGGCAGC
ENST00000517337.2:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000429971.2:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000523444.2:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000428252.2:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000697292.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513229.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697293.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513230.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697294.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513231.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697295.1:c.37+3044_37+3045insGGAACCGCTCGGGGCAGC	ENSP00000513232.1:n.37+3044_37+3045insGGAACCGCTCGGGGCAGC
ENST00000697296.1:c.172-588_172-587insGGAACCGCTCGGGGCAGC	ENSP00000513233.1:n.172-588_172-587insGGAACCGCTCGGGGCAGC
ENST00000697297.1:n.1518_1519insGGAACCGCTCGGGGCAGC
ENST00000697298.1:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000513234.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000697299.1:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000513235.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000697300.1:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000513236.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000697301.1:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000513237.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000697302.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513238.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697303.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513239.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697304.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513240.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697306.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513241.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697307.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513242.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697308.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513243.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697309.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513244.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697310.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513245.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697311.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513246.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697312.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513247.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697313.1:n.1524_1525insGGAACCGCTCGGGGCAGC
ENST00000697314.1:n.1524_1525insGGAACCGCTCGGGGCAGC
ENST00000697315.1:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000513248.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000697316.1:n.335_336insGGAACCGCTCGGGGCAGC
ENST00000697317.1:n.324_325insGGAACCGCTCGGGGCAGC
ENST00000697318.1:n.326_327insGGAACCGCTCGGGGCAGC
ENST00000265433.8:c.214_215insGGAACCGCTCGGGGCAGC MANE Select	ENSP00000265433.4:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000265433.7:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000265433.3:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000396252.6:c.*87_*88insGGAACCGCTCGGGGCAGC	ENSP00000379551.2:n.*87_*88insGGAACCGCTCGGGGCAGC
ENST00000409330.5:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000386924.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000517337.1:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000429971.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000517772.5:c.-33_-32insGGAACCGCTCGGGGCAGC	ENSP00000428717.1:n.-33_-32insGGAACCGCTCGGGGCAGC
ENST00000519426.5:c.214_215insGGAACCGCTCGGGGCAGC	ENSP00000430983.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
ENST00000523444.1:c.*87_*88insGGAACCGCTCGGGGCAGC	ENSP00000428252.1:n.*87_*88insGGAACCGCTCGGGGCAGC
NM_001024688.2:c.-33_-32insGGAACCGCTCGGGGCAGC	NP_001019859.1:n.-33_-32insGGAACCGCTCGGGGCAGC
NM_002485.4:c.214_215insGGAACCGCTCGGGGCAGC , LRG_158t1:c.214_215insGGAACCGCTCGGGGCAGC	NP_002476.2:p.Ser72delinsTrpAsnArgSerGlyGlnPro
XM_011517044.1:c.190_191insGGAACCGCTCGGGGCAGC	XP_011515346.1:p.Ser64delinsTrpAsnArgSerGlyGlnPro
XM_011517045.1:c.-33_-32insGGAACCGCTCGGGGCAGC	XP_011515347.1:n.-33_-32insGGAACCGCTCGGGGCAGC
XM_011517046.1:c.214_215insGGAACCGCTCGGGGCAGC	XP_011515348.1:p.Ser72delinsTrpAsnArgSerGlyGlnPro
XR_928335.1:n.351_352insGGAACCGCTCGGGGCAGC
XM_017013460.1:c.-756_-755insGGAACCGCTCGGGGCAGC	XP_016868949.1:n.-756_-755insGGAACCGCTCGGGGCAGC
XM_017013462.2:c.-562_-561insGGAACCGCTCGGGGCAGC	XP_016868951.1:n.-562_-561insGGAACCGCTCGGGGCAGC
XM_024447163.1:c.-33_-32insGGAACCGCTCGGGGCAGC	XP_024302931.1:n.-33_-32insGGAACCGCTCGGGGCAGC
XM_024447164.1:c.-33_-32insGGAACCGCTCGGGGCAGC	XP_024302932.1:n.-33_-32insGGAACCGCTCGGGGCAGC
XM_024447165.1:c.-756_-755insGGAACCGCTCGGGGCAGC	XP_024302933.1:n.-756_-755insGGAACCGCTCGGGGCAGC
NM_002485.5:c.214_215insGGAACCGCTCGGGGCAGC MANE Select	NP_002476.2:p.Ser72delinsTrpAsnArgSerGlyGlnPro
NM_001024688.3:c.-33_-32insGGAACCGCTCGGGGCAGC	NP_001019859.1:n.-33_-32insGGAACCGCTCGGGGCAGC