Canonical Allele Identifier: CA1801415416
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937053_89937054delinsTC , CM000670.2:g.89937053_89937054delinsTC GRCh38
NC_000008.10:g.90949281_90949282delinsTC , CM000670.1:g.90949281_90949282delinsTC GRCh37
NC_000008.9:g.91018457_91018458delinsTC NCBI36
NG_008860.1:g.52618_52619delinsGA , LRG_158:g.52618_52619delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3626_3627delinsGA
ENST00000494804.2:n.3508_3509delinsGA
ENST00000517337.2:c.1960_1961delinsGA ENSP00000429971.2:p.Glu654=
ENST00000523444.2:c.1960_1961delinsGA ENSP00000428252.2:p.Glu654=
ENST00000697292.1:c.2206_2207delinsGA ENSP00000513229.1:p.Glu736=
ENST00000697293.1:c.2257_2258delinsGA ENSP00000513230.1:p.Glu753=
ENST00000697294.1:c.*1817_*1818delinsGA ENSP00000513231.1:n.*1817_*1818delinsGA
ENST00000697295.1:c.*1515_*1516delinsGA ENSP00000513232.1:n.*1515_*1516delinsGA
ENST00000697296.1:c.*1874_*1875delinsGA ENSP00000513233.1:n.*1874_*1875delinsGA
ENST00000697297.1:n.3991_3992delinsGA
ENST00000697298.1:c.1960_1961delinsGA ENSP00000513234.1:p.Glu654=
ENST00000697299.1:c.1960_1961delinsGA ENSP00000513235.1:p.Glu654=
ENST00000697300.1:c.*1810_*1811delinsGA ENSP00000513236.1:n.*1810_*1811delinsGA
ENST00000697301.1:c.*1727_*1728delinsGA ENSP00000513237.1:n.*1727_*1728delinsGA
ENST00000697302.1:c.*1727_*1728delinsGA ENSP00000513238.1:n.*1727_*1728delinsGA
ENST00000697303.1:c.*1810_*1811delinsGA ENSP00000513239.1:n.*1810_*1811delinsGA
ENST00000697304.1:c.1894_1895delinsGA ENSP00000513240.1:p.Glu632=
ENST00000697305.1:n.2473_2474delinsGA
ENST00000697306.1:c.*2757_*2758delinsGA ENSP00000513241.1:n.*2757_*2758delinsGA
ENST00000697307.1:c.1981_1982delinsGA ENSP00000513242.1:p.Glu661=
ENST00000697308.1:c.2137_2138delinsGA ENSP00000513243.1:p.Glu713=
ENST00000697309.1:c.2185-1442_2185-1441delinsGA ENSP00000513244.1:n.2185-1442_2185-1441delinsGA
ENST00000697310.1:c.2206_2207delinsGA ENSP00000513245.1:p.Glu736=
ENST00000697311.1:c.*471_*472delinsGA ENSP00000513246.1:n.*471_*472delinsGA
ENST00000697312.1:c.*1659_*1660delinsGA ENSP00000513247.1:n.*1659_*1660delinsGA
ENST00000697313.1:n.2688-1442_2688-1441delinsGA
ENST00000697314.1:n.3637-1442_3637-1441delinsGA
ENST00000697315.1:c.*110_*111delinsGA ENSP00000513248.1:n.*110_*111delinsGA
ENST00000697316.1:n.2327_2328delinsGA
ENST00000265433.8:c.2206_2207delinsGA MANE Select ENSP00000265433.4:p.Glu736=
ENST00000265433.7:c.2206_2207delinsGA ENSP00000265433.3:p.Glu736=
ENST00000396252.6:c.*2079_*2080delinsGA ENSP00000379551.2:n.*2079_*2080delinsGA
ENST00000409330.5:c.1960_1961delinsGA ENSP00000386924.1:p.Glu654=
ENST00000474821.1:n.294_295delinsGA
ENST00000613033.1:c.316_317delinsGA ENSP00000484487.1:p.Glu106=
NM_001024688.2:c.1960_1961delinsGA NP_001019859.1:p.Glu654=
NM_002485.4:c.2206_2207delinsGA , LRG_158t1:c.2206_2207delinsGA NP_002476.2:p.Glu736=
XM_011517044.1:c.2182_2183delinsGA XP_011515346.1:p.Glu728=
XM_011517045.1:c.1960_1961delinsGA XP_011515347.1:p.Glu654=
XM_017013460.1:c.1327_1328delinsGA XP_016868949.1:p.Glu443=
XM_017013462.2:c.1327_1328delinsGA XP_016868951.1:p.Glu443=
XM_024447163.1:c.1960_1961delinsGA XP_024302931.1:p.Glu654=
XM_024447164.1:c.1960_1961delinsGA XP_024302932.1:p.Glu654=
XM_024447165.1:c.1327_1328delinsGA XP_024302933.1:p.Glu443=
NM_002485.5:c.2206_2207delinsGA MANE Select NP_002476.2:p.Glu736=
NM_001024688.3:c.1960_1961delinsGA NP_001019859.1:p.Glu654=