Canonical Allele Identifier: CA1801420301
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947880_89947884delinsTTTCA , CM000670.2:g.89947880_89947884delinsTTTCA GRCh38
NC_000008.10:g.90960108_90960112delinsTTTCA , CM000670.1:g.90960108_90960112delinsTTTCA GRCh37
NC_000008.9:g.91029284_91029288delinsTTTCA NCBI36
NG_008860.1:g.41788_41792delinsTGAAA , LRG_158:g.41788_41792delinsTGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3156_3160delinsTGAAA
ENST00000517337.2:c.1608_1612delinsTGAAA ENSP00000429971.2:p.Asn536=
ENST00000523444.2:c.1608_1612delinsTGAAA ENSP00000428252.2:p.Asn536=
ENST00000697292.1:c.1854_1858delinsTGAAA ENSP00000513229.1:p.Asn618=
ENST00000697293.1:c.1854_1858delinsTGAAA ENSP00000513230.1:p.Asn618=
ENST00000697294.1:c.*1465_*1469delinsTGAAA ENSP00000513231.1:n.*1465_*1469delinsTGAAA
ENST00000697295.1:c.*1163_*1167delinsTGAAA ENSP00000513232.1:n.*1163_*1167delinsTGAAA
ENST00000697296.1:c.*1522_*1526delinsTGAAA ENSP00000513233.1:n.*1522_*1526delinsTGAAA
ENST00000697297.1:n.3639_3643delinsTGAAA
ENST00000697298.1:c.1608_1612delinsTGAAA ENSP00000513234.1:p.Asn536=
ENST00000697299.1:c.1608_1612delinsTGAAA ENSP00000513235.1:p.Asn536=
ENST00000697300.1:c.*1458_*1462delinsTGAAA ENSP00000513236.1:n.*1458_*1462delinsTGAAA
ENST00000697301.1:c.*1375_*1379delinsTGAAA ENSP00000513237.1:n.*1375_*1379delinsTGAAA
ENST00000697302.1:c.*1375_*1379delinsTGAAA ENSP00000513238.1:n.*1375_*1379delinsTGAAA
ENST00000697303.1:c.*1458_*1462delinsTGAAA ENSP00000513239.1:n.*1458_*1462delinsTGAAA
ENST00000697304.1:c.1542_1546delinsTGAAA ENSP00000513240.1:p.Asn514=
ENST00000697306.1:c.*877_*881delinsTGAAA ENSP00000513241.1:n.*877_*881delinsTGAAA
ENST00000697307.1:c.1846-4518_1846-4514delinsTGAAA ENSP00000513242.1:n.1846-4518_1846-4514delinsTGAAA
ENST00000697308.1:c.1846-1589_1846-1585delinsTGAAA ENSP00000513243.1:n.1846-1589_1846-1585delinsTGAAA
ENST00000697309.1:c.1854_1858delinsTGAAA ENSP00000513244.1:p.Asn618=
ENST00000697310.1:c.1854_1858delinsTGAAA ENSP00000513245.1:p.Asn618=
ENST00000697311.1:c.1854_1858delinsTGAAA ENSP00000513246.1:p.Asn618=
ENST00000697312.1:c.*1252_*1256delinsTGAAA ENSP00000513247.1:n.*1252_*1256delinsTGAAA
ENST00000697313.1:n.2688-12272_2688-12268delinsTGAAA
ENST00000697314.1:n.3636+5360_3636+5364delinsTGAAA
ENST00000697315.1:c.1854_1858delinsTGAAA ENSP00000513248.1:p.Asn618=
ENST00000697316.1:n.1975_1979delinsTGAAA
ENST00000697317.1:n.1964_1968delinsTGAAA
ENST00000265433.8:c.1854_1858delinsTGAAA MANE Select ENSP00000265433.4:p.Asn618=
ENST00000265433.7:c.1854_1858delinsTGAAA ENSP00000265433.3:p.Asn618=
ENST00000396252.6:c.*1727_*1731delinsTGAAA ENSP00000379551.2:n.*1727_*1731delinsTGAAA
ENST00000409330.5:c.1608_1612delinsTGAAA ENSP00000386924.1:p.Asn536=
ENST00000613033.1:c.120_124delinsTGAAA ENSP00000484487.1:p.Asn40=
NM_001024688.2:c.1608_1612delinsTGAAA NP_001019859.1:p.Asn536=
NM_002485.4:c.1854_1858delinsTGAAA , LRG_158t1:c.1854_1858delinsTGAAA NP_002476.2:p.Asn618=
XM_011517044.1:c.1830_1834delinsTGAAA XP_011515346.1:p.Asn610=
XM_011517045.1:c.1608_1612delinsTGAAA XP_011515347.1:p.Asn536=
XR_928335.1:n.1993_1997delinsTGAAA
XM_017013460.1:c.975_979delinsTGAAA XP_016868949.1:p.Asn325=
XM_017013462.2:c.975_979delinsTGAAA XP_016868951.1:p.Asn325=
XM_024447163.1:c.1608_1612delinsTGAAA XP_024302931.1:p.Asn536=
XM_024447164.1:c.1608_1612delinsTGAAA XP_024302932.1:p.Asn536=
XM_024447165.1:c.975_979delinsTGAAA XP_024302933.1:p.Asn325=
NM_002485.5:c.1854_1858delinsTGAAA MANE Select NP_002476.2:p.Asn618=
NM_001024688.3:c.1608_1612delinsTGAAA NP_001019859.1:p.Asn536=