Canonical Allele Identifier: CA350756
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89943281_89943283dup , CM000670.2:g.89943281_89943283dup GRCh38
NC_000008.10:g.90955509_90955511dup , CM000670.1:g.90955509_90955511dup GRCh37
NC_000008.9:g.91024685_91024687dup NCBI36
NG_008860.1:g.46390_46392dup , LRG_158:g.46390_46392dup

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.2155_2157dup MANE Select NP_002476.2:p.Leu719_Glu720insLeu
ENST00000265433.8:c.2155_2157dup MANE Select ENSP00000265433.4:p.Leu719_Glu720insLeu
NM_001024688.2:c.1909_1911dup NP_001019859.1:p.Leu637_Glu638insLeu
NM_001024688.3:c.1909_1911dup NP_001019859.1:p.Leu637_Glu638insLeu
NM_002485.4:c.2155_2157dup , LRG_158t1:c.2155_2157dup NP_002476.2:p.Leu719_Glu720insLeu
ENST00000265433.7:c.2155_2157dup ENSP00000265433.3:p.Leu719_Glu720insLeu
ENST00000396252.6:c.*2028_*2030dup ENSP00000379551.2:n.*2028_*2030dup
ENST00000409330.5:c.1909_1911dup ENSP00000386924.1:p.Leu637_Glu638insLeu
ENST00000494804.2:n.3457_3459dup
ENST00000517337.2:c.1909_1911dup ENSP00000429971.2:p.Leu637_Glu638insLeu
ENST00000523444.2:c.1909_1911dup ENSP00000428252.2:p.Leu637_Glu638insLeu
ENST00000613033.1:c.265_267dup ENSP00000484487.1:p.Leu89_Glu90insLeu
ENST00000697292.1:c.2155_2157dup ENSP00000513229.1:p.Leu719_Glu720insLeu
ENST00000697293.1:c.2155_2157dup ENSP00000513230.1:p.Leu719_Glu720insLeu
ENST00000697294.1:c.*1766_*1768dup ENSP00000513231.1:n.*1766_*1768dup
ENST00000697295.1:c.*1464_*1466dup ENSP00000513232.1:n.*1464_*1466dup
ENST00000697296.1:c.*1823_*1825dup ENSP00000513233.1:n.*1823_*1825dup
ENST00000697297.1:n.3940_3942dup
ENST00000697298.1:c.1909_1911dup ENSP00000513234.1:p.Leu637_Glu638insLeu
ENST00000697299.1:c.1909_1911dup ENSP00000513235.1:p.Leu637_Glu638insLeu
ENST00000697300.1:c.*1759_*1761dup ENSP00000513236.1:n.*1759_*1761dup
ENST00000697301.1:c.*1676_*1678dup ENSP00000513237.1:n.*1676_*1678dup
ENST00000697302.1:c.*1676_*1678dup ENSP00000513238.1:n.*1676_*1678dup
ENST00000697303.1:c.*1759_*1761dup ENSP00000513239.1:n.*1759_*1761dup
ENST00000697304.1:c.1843_1845dup ENSP00000513240.1:p.Leu615_Glu616insLeu
ENST00000697305.1:n.2422_2424dup
ENST00000697306.1:c.*2706_*2708dup ENSP00000513241.1:n.*2706_*2708dup
ENST00000697307.1:c.1930_1932dup ENSP00000513242.1:p.Leu644_Glu645insLeu
ENST00000697308.1:c.2086_2088dup ENSP00000513243.1:p.Leu696_Glu697insLeu
ENST00000697309.1:c.2155_2157dup ENSP00000513244.1:p.Leu719_Glu720insLeu
ENST00000697310.1:c.2155_2157dup ENSP00000513245.1:p.Leu719_Glu720insLeu
ENST00000697311.1:c.2155_2157dup ENSP00000513246.1:p.Leu719_Glu720insLeu
ENST00000697312.1:c.*1553_*1555dup ENSP00000513247.1:n.*1553_*1555dup
ENST00000697313.1:n.2688-7670_2688-7668dup
ENST00000697314.1:n.3637-7670_3637-7668dup
ENST00000697315.1:c.2155_2157dup ENSP00000513248.1:p.Leu719_Glu720insLeu
ENST00000697316.1:n.2276_2278dup
XM_011517044.1:c.2131_2133dup XP_011515346.1:p.Leu711_Glu712insLeu
XM_011517045.1:c.1909_1911dup XP_011515347.1:p.Leu637_Glu638insLeu
XM_017013460.1:c.1276_1278dup XP_016868949.1:p.Leu426_Glu427insLeu
XM_017013462.2:c.1276_1278dup XP_016868951.1:p.Leu426_Glu427insLeu
XM_024447163.1:c.1909_1911dup XP_024302931.1:p.Leu637_Glu638insLeu
XM_024447164.1:c.1909_1911dup XP_024302932.1:p.Leu637_Glu638insLeu
XM_024447165.1:c.1276_1278dup XP_024302933.1:p.Leu426_Glu427insLeu