Canonical Allele Identifier: CA1801419543
Gene: NBN HGNC NCBI

Linked Data

dbSNP Id: rs1810184926

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946247dup , CM000670.2:g.89946247dup GRCh38
NC_000008.10:g.90958475dup , CM000670.1:g.90958475dup GRCh37
NC_000008.9:g.91027651dup NCBI36
NG_008860.1:g.43426dup , LRG_158:g.43426dup

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3266dup
ENST00000517337.2:c.1718dup ENSP00000429971.2:p.Leu573PhefsTer4
ENST00000523444.2:c.1718dup ENSP00000428252.2:p.Leu573PhefsTer4
ENST00000697292.1:c.1964dup ENSP00000513229.1:p.Leu655PhefsTer4
ENST00000697293.1:c.1964dup ENSP00000513230.1:p.Leu655PhefsTer4
ENST00000697294.1:c.*1575dup ENSP00000513231.1:n.*1575dup
ENST00000697295.1:c.*1273dup ENSP00000513232.1:n.*1273dup
ENST00000697296.1:c.*1632dup ENSP00000513233.1:n.*1632dup
ENST00000697297.1:n.3749dup
ENST00000697298.1:c.1718dup ENSP00000513234.1:p.Leu573PhefsTer4
ENST00000697299.1:c.1718dup ENSP00000513235.1:p.Leu573PhefsTer4
ENST00000697300.1:c.*1568dup ENSP00000513236.1:n.*1568dup
ENST00000697301.1:c.*1485dup ENSP00000513237.1:n.*1485dup
ENST00000697302.1:c.*1485dup ENSP00000513238.1:n.*1485dup
ENST00000697303.1:c.*1568dup ENSP00000513239.1:n.*1568dup
ENST00000697304.1:c.1652dup ENSP00000513240.1:p.Leu551PhefsTer4
ENST00000697306.1:c.*2515dup ENSP00000513241.1:n.*2515dup
ENST00000697307.1:c.1846-2880dup ENSP00000513242.1:n.1846-2880dup
ENST00000697308.1:c.1895dup ENSP00000513243.1:p.Leu632PhefsTer4
ENST00000697309.1:c.1964dup ENSP00000513244.1:p.Leu655PhefsTer4
ENST00000697310.1:c.1964dup ENSP00000513245.1:p.Leu655PhefsTer4
ENST00000697311.1:c.1964dup ENSP00000513246.1:p.Leu655PhefsTer4
ENST00000697312.1:c.*1362dup ENSP00000513247.1:n.*1362dup
ENST00000697313.1:n.2688-10634dup
ENST00000697314.1:n.3636+6998dup
ENST00000697315.1:c.1964dup ENSP00000513248.1:p.Leu655PhefsTer4
ENST00000697316.1:n.2085dup
ENST00000697317.1:n.2055dup
ENST00000265433.8:c.1964dup MANE Select ENSP00000265433.4:p.Leu655PhefsTer4
ENST00000265433.7:c.1964dup ENSP00000265433.3:p.Leu655PhefsTer4
ENST00000396252.6:c.*1837dup ENSP00000379551.2:n.*1837dup
ENST00000409330.5:c.1718dup ENSP00000386924.1:p.Leu573PhefsTer4
ENST00000520325.1:n.380dup
ENST00000613033.1:c.180+1578dup ENSP00000484487.1:n.180+1578dup
NM_001024688.2:c.1718dup NP_001019859.1:p.Leu573PhefsTer4
NM_002485.4:c.1964dup , LRG_158t1:c.1964dup NP_002476.2:p.Leu655PhefsTer4
XM_011517044.1:c.1940dup XP_011515346.1:p.Leu647PhefsTer4
XM_011517045.1:c.1718dup XP_011515347.1:p.Leu573PhefsTer4
XM_017013460.1:c.1085dup XP_016868949.1:p.Leu362PhefsTer4
XM_017013462.2:c.1085dup XP_016868951.1:p.Leu362PhefsTer4
XM_024447163.1:c.1718dup XP_024302931.1:p.Leu573PhefsTer4
XM_024447164.1:c.1718dup XP_024302932.1:p.Leu573PhefsTer4
XM_024447165.1:c.1085dup XP_024302933.1:p.Leu362PhefsTer4
NM_002485.5:c.1964dup MANE Select NP_002476.2:p.Leu655PhefsTer4
NM_001024688.3:c.1718dup NP_001019859.1:p.Leu573PhefsTer4