Canonical Allele Identifier: CA2697550003

Gene: NBN

Linked Data

• ClinVar Variation Id: 2764537
• ClinVar RCV Id: RCV003507780

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937062dup , CM000670.2:g.89937062dup	GRCh38
NC_000008.10:g.90949290dup , CM000670.1:g.90949290dup	GRCh37
NC_000008.9:g.91018466dup	NCBI36
NG_008860.1:g.52610dup , LRG_158:g.52610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3618dup
ENST00000494804.2:n.3500dup
ENST00000517337.2:c.1952dup	ENSP00000429971.2:p.His651GlnfsTer9
ENST00000523444.2:c.1952dup	ENSP00000428252.2:p.His651GlnfsTer9
ENST00000697292.1:c.2198dup	ENSP00000513229.1:p.His733GlnfsTer9
ENST00000697293.1:c.2249dup	ENSP00000513230.1:p.His750GlnfsTer9
ENST00000697294.1:c.*1809dup	ENSP00000513231.1:n.*1809dup
ENST00000697295.1:c.*1507dup	ENSP00000513232.1:n.*1507dup
ENST00000697296.1:c.*1866dup	ENSP00000513233.1:n.*1866dup
ENST00000697297.1:n.3983dup
ENST00000697298.1:c.1952dup	ENSP00000513234.1:p.His651GlnfsTer9
ENST00000697299.1:c.1952dup	ENSP00000513235.1:p.His651GlnfsTer9
ENST00000697300.1:c.*1802dup	ENSP00000513236.1:n.*1802dup
ENST00000697301.1:c.*1719dup	ENSP00000513237.1:n.*1719dup
ENST00000697302.1:c.*1719dup	ENSP00000513238.1:n.*1719dup
ENST00000697303.1:c.*1802dup	ENSP00000513239.1:n.*1802dup
ENST00000697304.1:c.1886dup	ENSP00000513240.1:p.His629GlnfsTer9
ENST00000697305.1:n.2465dup
ENST00000697306.1:c.*2749dup	ENSP00000513241.1:n.*2749dup
ENST00000697307.1:c.1973dup	ENSP00000513242.1:p.His658GlnfsTer9
ENST00000697308.1:c.2129dup	ENSP00000513243.1:p.His710GlnfsTer9
ENST00000697309.1:c.2185-1450dup	ENSP00000513244.1:n.2185-1450dup
ENST00000697310.1:c.2198dup	ENSP00000513245.1:p.His733GlnfsTer9
ENST00000697311.1:c.*463dup	ENSP00000513246.1:n.*463dup
ENST00000697312.1:c.*1651dup	ENSP00000513247.1:n.*1651dup
ENST00000697313.1:n.2688-1450dup
ENST00000697314.1:n.3637-1450dup
ENST00000697315.1:c.*102dup	ENSP00000513248.1:n.*102dup
ENST00000697316.1:n.2319dup
ENST00000265433.8:c.2198dup MANE Select	ENSP00000265433.4:p.His733GlnfsTer9
ENST00000265433.7:c.2198dup	ENSP00000265433.3:p.His733GlnfsTer9
ENST00000396252.6:c.*2071dup	ENSP00000379551.2:n.*2071dup
ENST00000409330.5:c.1952dup	ENSP00000386924.1:p.His651GlnfsTer9
ENST00000474821.1:n.286dup
ENST00000613033.1:c.308dup	ENSP00000484487.1:p.His103GlnfsTer9
NM_001024688.2:c.1952dup	NP_001019859.1:p.His651GlnfsTer9
NM_002485.4:c.2198dup , LRG_158t1:c.2198dup	NP_002476.2:p.His733GlnfsTer9
XM_011517044.1:c.2174dup	XP_011515346.1:p.His725GlnfsTer9
XM_011517045.1:c.1952dup	XP_011515347.1:p.His651GlnfsTer9
XM_017013460.1:c.1319dup	XP_016868949.1:p.His440GlnfsTer9
XM_017013462.2:c.1319dup	XP_016868951.1:p.His440GlnfsTer9
XM_024447163.1:c.1952dup	XP_024302931.1:p.His651GlnfsTer9
XM_024447164.1:c.1952dup	XP_024302932.1:p.His651GlnfsTer9
XM_024447165.1:c.1319dup	XP_024302933.1:p.His440GlnfsTer9
NM_002485.5:c.2198dup MANE Select	NP_002476.2:p.His733GlnfsTer9
NM_001024688.3:c.1952dup	NP_001019859.1:p.His651GlnfsTer9