Canonical Allele Identifier: CA1139660627

Gene: NBN

Linked Data

• ClinVar Variation Id: 935476
• ClinVar RCV Id: RCV001204074
• dbSNP Id: rs1810527499

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953330_89953390dup , CM000670.2:g.89953330_89953390dup	GRCh38
NC_000008.10:g.90965558_90965618dup , CM000670.1:g.90965558_90965618dup	GRCh37
NC_000008.9:g.91034734_91034794dup	NCBI36
NG_008860.1:g.36283_36343dup , LRG_158:g.36283_36343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3002_3062dup
ENST00000517337.2:c.1454_1514dup	ENSP00000429971.2:p.Asn506GlnfsTer10
ENST00000523444.2:c.1454_1514dup	ENSP00000428252.2:p.Asn506GlnfsTer10
ENST00000697292.1:c.1700_1760dup	ENSP00000513229.1:p.Asn588GlnfsTer10
ENST00000697293.1:c.1700_1760dup	ENSP00000513230.1:p.Asn588GlnfsTer10
ENST00000697294.1:c.*1311_*1371dup	ENSP00000513231.1:n.*1311_*1371dup
ENST00000697295.1:c.*1009_*1069dup	ENSP00000513232.1:n.*1009_*1069dup
ENST00000697296.1:c.*1368_*1428dup	ENSP00000513233.1:n.*1368_*1428dup
ENST00000697297.1:n.3485_3545dup
ENST00000697298.1:c.1454_1514dup	ENSP00000513234.1:p.Asn506GlnfsTer10
ENST00000697299.1:c.1454_1514dup	ENSP00000513235.1:p.Asn506GlnfsTer10
ENST00000697300.1:c.*1304_*1364dup	ENSP00000513236.1:n.*1304_*1364dup
ENST00000697301.1:c.*1221_*1281dup	ENSP00000513237.1:n.*1221_*1281dup
ENST00000697302.1:c.*1221_*1281dup	ENSP00000513238.1:n.*1221_*1281dup
ENST00000697303.1:c.*1304_*1364dup	ENSP00000513239.1:n.*1304_*1364dup
ENST00000697304.1:c.1388_1448dup	ENSP00000513240.1:p.Asn484GlnfsTer10
ENST00000697306.1:c.*700_*760dup	ENSP00000513241.1:n.*700_*760dup
ENST00000697307.1:c.1700_1760dup	ENSP00000513242.1:p.Asn588GlnfsTer10
ENST00000697308.1:c.1700_1760dup	ENSP00000513243.1:p.Asn588GlnfsTer10
ENST00000697309.1:c.1700_1760dup	ENSP00000513244.1:p.Asn588GlnfsTer10
ENST00000697310.1:c.1700_1760dup	ENSP00000513245.1:p.Asn588GlnfsTer10
ENST00000697311.1:c.1700_1760dup	ENSP00000513246.1:p.Asn588GlnfsTer10
ENST00000697312.1:c.*1098_*1158dup	ENSP00000513247.1:n.*1098_*1158dup
ENST00000697313.1:n.2687+16975_2687+17035dup
ENST00000697314.1:n.3491_3551dup
ENST00000697315.1:c.1700_1760dup	ENSP00000513248.1:p.Asn588GlnfsTer10
ENST00000697316.1:n.1821_1881dup
ENST00000697317.1:n.1810_1870dup
ENST00000697318.1:n.1812_1872dup
ENST00000265433.8:c.1700_1760dup MANE Select	ENSP00000265433.4:p.Asn588GlnfsTer10
ENST00000265433.7:c.1700_1760dup	ENSP00000265433.3:p.Asn588GlnfsTer10
ENST00000396252.6:c.*1573_*1633dup	ENSP00000379551.2:n.*1573_*1633dup
ENST00000409330.5:c.1454_1514dup	ENSP00000386924.1:p.Asn506GlnfsTer10
NM_001024688.2:c.1454_1514dup	NP_001019859.1:p.Asn506GlnfsTer10
NM_002485.4:c.1700_1760dup , LRG_158t1:c.1700_1760dup	NP_002476.2:p.Asn588GlnfsTer10
XM_011517044.1:c.1676_1736dup	XP_011515346.1:p.Asn580GlnfsTer10
XM_011517045.1:c.1454_1514dup	XP_011515347.1:p.Asn506GlnfsTer10
XR_928335.1:n.1839_1899dup
XM_017013460.1:c.821_881dup	XP_016868949.1:p.Asn295GlnfsTer10
XM_017013462.2:c.821_881dup	XP_016868951.1:p.Asn295GlnfsTer10
XM_024447163.1:c.1454_1514dup	XP_024302931.1:p.Asn506GlnfsTer10
XM_024447164.1:c.1454_1514dup	XP_024302932.1:p.Asn506GlnfsTer10
XM_024447165.1:c.821_881dup	XP_024302933.1:p.Asn295GlnfsTer10
NM_002485.5:c.1700_1760dup MANE Select	NP_002476.2:p.Asn588GlnfsTer10
NM_001024688.3:c.1454_1514dup	NP_001019859.1:p.Asn506GlnfsTer10