Canonical Allele Identifier: CA1139660630

Gene: NBN

Linked Data

• ClinVar Variation Id: 947685
• ClinVar RCV Id: RCV001218804
• dbSNP Id: rs1810529464

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953342dup , CM000670.2:g.89953342dup	GRCh38
NC_000008.10:g.90965570dup , CM000670.1:g.90965570dup	GRCh37
NC_000008.9:g.91034746dup	NCBI36
NG_008860.1:g.36330dup , LRG_158:g.36330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3049dup
ENST00000517337.2:c.1501dup	ENSP00000429971.2:p.Gln501ProfsTer8
ENST00000523444.2:c.1501dup	ENSP00000428252.2:p.Gln501ProfsTer8
ENST00000697292.1:c.1747dup	ENSP00000513229.1:p.Gln583ProfsTer8
ENST00000697293.1:c.1747dup	ENSP00000513230.1:p.Gln583ProfsTer8
ENST00000697294.1:c.*1358dup	ENSP00000513231.1:n.*1358dup
ENST00000697295.1:c.*1056dup	ENSP00000513232.1:n.*1056dup
ENST00000697296.1:c.*1415dup	ENSP00000513233.1:n.*1415dup
ENST00000697297.1:n.3532dup
ENST00000697298.1:c.1501dup	ENSP00000513234.1:p.Gln501ProfsTer8
ENST00000697299.1:c.1501dup	ENSP00000513235.1:p.Gln501ProfsTer8
ENST00000697300.1:c.*1351dup	ENSP00000513236.1:n.*1351dup
ENST00000697301.1:c.*1268dup	ENSP00000513237.1:n.*1268dup
ENST00000697302.1:c.*1268dup	ENSP00000513238.1:n.*1268dup
ENST00000697303.1:c.*1351dup	ENSP00000513239.1:n.*1351dup
ENST00000697304.1:c.1435dup	ENSP00000513240.1:p.Gln479ProfsTer8
ENST00000697306.1:c.*747dup	ENSP00000513241.1:n.*747dup
ENST00000697307.1:c.1747dup	ENSP00000513242.1:p.Gln583ProfsTer8
ENST00000697308.1:c.1747dup	ENSP00000513243.1:p.Gln583ProfsTer8
ENST00000697309.1:c.1747dup	ENSP00000513244.1:p.Gln583ProfsTer8
ENST00000697310.1:c.1747dup	ENSP00000513245.1:p.Gln583ProfsTer8
ENST00000697311.1:c.1747dup	ENSP00000513246.1:p.Gln583ProfsTer8
ENST00000697312.1:c.*1145dup	ENSP00000513247.1:n.*1145dup
ENST00000697313.1:n.2687+17022dup
ENST00000697314.1:n.3538dup
ENST00000697315.1:c.1747dup	ENSP00000513248.1:p.Gln583ProfsTer8
ENST00000697316.1:n.1868dup
ENST00000697317.1:n.1857dup
ENST00000697318.1:n.1859dup
ENST00000265433.8:c.1747dup MANE Select	ENSP00000265433.4:p.Gln583ProfsTer8
ENST00000265433.7:c.1747dup	ENSP00000265433.3:p.Gln583ProfsTer8
ENST00000396252.6:c.*1620dup	ENSP00000379551.2:n.*1620dup
ENST00000409330.5:c.1501dup	ENSP00000386924.1:p.Gln501ProfsTer8
ENST00000613033.1:c.13dup	ENSP00000484487.1:p.Gln5ProfsTer8
NM_001024688.2:c.1501dup	NP_001019859.1:p.Gln501ProfsTer8
NM_002485.4:c.1747dup , LRG_158t1:c.1747dup	NP_002476.2:p.Gln583ProfsTer8
XM_011517044.1:c.1723dup	XP_011515346.1:p.Gln575ProfsTer8
XM_011517045.1:c.1501dup	XP_011515347.1:p.Gln501ProfsTer8
XR_928335.1:n.1886dup
XM_017013460.1:c.868dup	XP_016868949.1:p.Gln290ProfsTer8
XM_017013462.2:c.868dup	XP_016868951.1:p.Gln290ProfsTer8
XM_024447163.1:c.1501dup	XP_024302931.1:p.Gln501ProfsTer8
XM_024447164.1:c.1501dup	XP_024302932.1:p.Gln501ProfsTer8
XM_024447165.1:c.868dup	XP_024302933.1:p.Gln290ProfsTer8
NM_002485.5:c.1747dup MANE Select	NP_002476.2:p.Gln583ProfsTer8
NM_001024688.3:c.1501dup	NP_001019859.1:p.Gln501ProfsTer8