Canonical Allele Identifier: CA1801419485
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946159_89946161delinsTTT , CM000670.2:g.89946159_89946161delinsTTT GRCh38
NC_000008.10:g.90958387_90958389delinsTTT , CM000670.1:g.90958387_90958389delinsTTT GRCh37
NC_000008.9:g.91027563_91027565delinsTTT NCBI36
NG_008860.1:g.43511_43513delinsAAA , LRG_158:g.43511_43513delinsAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3351_3353delinsAAA
ENST00000517337.2:c.1803_1805delinsAAA ENSP00000429971.2:p.Lys601=
ENST00000523444.2:c.1803_1805delinsAAA ENSP00000428252.2:p.Lys601=
ENST00000697292.1:c.2049_2051delinsAAA ENSP00000513229.1:p.Lys683=
ENST00000697293.1:c.2049_2051delinsAAA ENSP00000513230.1:p.Lys683=
ENST00000697294.1:c.*1660_*1662delinsAAA ENSP00000513231.1:n.*1660_*1662delinsAAA
ENST00000697295.1:c.*1358_*1360delinsAAA ENSP00000513232.1:n.*1358_*1360delinsAAA
ENST00000697296.1:c.*1717_*1719delinsAAA ENSP00000513233.1:n.*1717_*1719delinsAAA
ENST00000697297.1:n.3834_3836delinsAAA
ENST00000697298.1:c.1803_1805delinsAAA ENSP00000513234.1:p.Lys601=
ENST00000697299.1:c.1803_1805delinsAAA ENSP00000513235.1:p.Lys601=
ENST00000697300.1:c.*1653_*1655delinsAAA ENSP00000513236.1:n.*1653_*1655delinsAAA
ENST00000697301.1:c.*1570_*1572delinsAAA ENSP00000513237.1:n.*1570_*1572delinsAAA
ENST00000697302.1:c.*1570_*1572delinsAAA ENSP00000513238.1:n.*1570_*1572delinsAAA
ENST00000697303.1:c.*1653_*1655delinsAAA ENSP00000513239.1:n.*1653_*1655delinsAAA
ENST00000697304.1:c.1737_1739delinsAAA ENSP00000513240.1:p.Lys579=
ENST00000697306.1:c.*2600_*2602delinsAAA ENSP00000513241.1:n.*2600_*2602delinsAAA
ENST00000697307.1:c.1846-2795_1846-2793delinsAAA ENSP00000513242.1:n.1846-2795_1846-2793delinsAAA
ENST00000697308.1:c.1980_1982delinsAAA ENSP00000513243.1:p.Lys660=
ENST00000697309.1:c.2049_2051delinsAAA ENSP00000513244.1:p.Lys683=
ENST00000697310.1:c.2049_2051delinsAAA ENSP00000513245.1:p.Lys683=
ENST00000697311.1:c.2049_2051delinsAAA ENSP00000513246.1:p.Lys683=
ENST00000697312.1:c.*1447_*1449delinsAAA ENSP00000513247.1:n.*1447_*1449delinsAAA
ENST00000697313.1:n.2688-10549_2688-10547delinsAAA
ENST00000697314.1:n.3636+7083_3636+7085delinsAAA
ENST00000697315.1:c.2049_2051delinsAAA ENSP00000513248.1:p.Lys683=
ENST00000697316.1:n.2170_2172delinsAAA
ENST00000697317.1:n.2140_2142delinsAAA
ENST00000265433.8:c.2049_2051delinsAAA MANE Select ENSP00000265433.4:p.Lys683=
ENST00000265433.7:c.2049_2051delinsAAA ENSP00000265433.3:p.Lys683=
ENST00000396252.6:c.*1922_*1924delinsAAA ENSP00000379551.2:n.*1922_*1924delinsAAA
ENST00000409330.5:c.1803_1805delinsAAA ENSP00000386924.1:p.Lys601=
ENST00000520325.1:n.465_467delinsAAA
ENST00000613033.1:c.180+1663_180+1665delinsAAA ENSP00000484487.1:n.180+1663_180+1665delinsAAA
NM_001024688.2:c.1803_1805delinsAAA NP_001019859.1:p.Lys601=
NM_002485.4:c.2049_2051delinsAAA , LRG_158t1:c.2049_2051delinsAAA NP_002476.2:p.Lys683=
XM_011517044.1:c.2025_2027delinsAAA XP_011515346.1:p.Lys675=
XM_011517045.1:c.1803_1805delinsAAA XP_011515347.1:p.Lys601=
XM_017013460.1:c.1170_1172delinsAAA XP_016868949.1:p.Lys390=
XM_017013462.2:c.1170_1172delinsAAA XP_016868951.1:p.Lys390=
XM_024447163.1:c.1803_1805delinsAAA XP_024302931.1:p.Lys601=
XM_024447164.1:c.1803_1805delinsAAA XP_024302932.1:p.Lys601=
XM_024447165.1:c.1170_1172delinsAAA XP_024302933.1:p.Lys390=
NM_002485.5:c.2049_2051delinsAAA MANE Select NP_002476.2:p.Lys683=
NM_001024688.3:c.1803_1805delinsAAA NP_001019859.1:p.Lys601=