Canonical Allele Identifier: CA1801415396

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937031_89937033delinsAAG , CM000670.2:g.89937031_89937033delinsAAG	GRCh38
NC_000008.10:g.90949259_90949261delinsAAG , CM000670.1:g.90949259_90949261delinsAAG	GRCh37
NC_000008.9:g.91018435_91018437delinsAAG	NCBI36
NG_008860.1:g.52639_52641delinsCTT , LRG_158:g.52639_52641delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3647_3649delinsCTT
ENST00000494804.2:n.3529_3531delinsCTT
ENST00000517337.2:c.1981_1983delinsCTT	ENSP00000429971.2:p.Leu661=
ENST00000523444.2:c.1981_1983delinsCTT	ENSP00000428252.2:p.Leu661=
ENST00000697292.1:c.2227_2229delinsCTT	ENSP00000513229.1:p.Leu743=
ENST00000697293.1:c.2278_2280delinsCTT	ENSP00000513230.1:p.Leu760=
ENST00000697294.1:c.*1838_*1840delinsCTT	ENSP00000513231.1:n.*1838_*1840delinsCTT
ENST00000697295.1:c.*1536_*1538delinsCTT	ENSP00000513232.1:n.*1536_*1538delinsCTT
ENST00000697296.1:c.*1895_*1897delinsCTT	ENSP00000513233.1:n.*1895_*1897delinsCTT
ENST00000697297.1:n.4012_4014delinsCTT
ENST00000697298.1:c.1981_1983delinsCTT	ENSP00000513234.1:p.Leu661=
ENST00000697299.1:c.1981_1983delinsCTT	ENSP00000513235.1:p.Leu661=
ENST00000697300.1:c.*1831_*1833delinsCTT	ENSP00000513236.1:n.*1831_*1833delinsCTT
ENST00000697301.1:c.*1748_*1750delinsCTT	ENSP00000513237.1:n.*1748_*1750delinsCTT
ENST00000697302.1:c.*1748_*1750delinsCTT	ENSP00000513238.1:n.*1748_*1750delinsCTT
ENST00000697303.1:c.*1831_*1833delinsCTT	ENSP00000513239.1:n.*1831_*1833delinsCTT
ENST00000697304.1:c.1915_1917delinsCTT	ENSP00000513240.1:p.Leu639=
ENST00000697305.1:n.2494_2496delinsCTT
ENST00000697306.1:c.*2778_*2780delinsCTT	ENSP00000513241.1:n.*2778_*2780delinsCTT
ENST00000697307.1:c.2002_2004delinsCTT	ENSP00000513242.1:p.Leu668=
ENST00000697308.1:c.2158_2160delinsCTT	ENSP00000513243.1:p.Leu720=
ENST00000697309.1:c.2185-1421_2185-1419delinsCTT	ENSP00000513244.1:n.2185-1421_2185-1419delinsCTT
ENST00000697310.1:c.2227_2229delinsCTT	ENSP00000513245.1:p.Leu743=
ENST00000697311.1:c.*492_*494delinsCTT	ENSP00000513246.1:n.*492_*494delinsCTT
ENST00000697312.1:c.*1680_*1682delinsCTT	ENSP00000513247.1:n.*1680_*1682delinsCTT
ENST00000697313.1:n.2688-1421_2688-1419delinsCTT
ENST00000697314.1:n.3637-1421_3637-1419delinsCTT
ENST00000697315.1:c.*131_*133delinsCTT	ENSP00000513248.1:n.*131_*133delinsCTT
ENST00000697316.1:n.2348_2350delinsCTT
ENST00000265433.8:c.2227_2229delinsCTT MANE Select	ENSP00000265433.4:p.Leu743=
ENST00000265433.7:c.2227_2229delinsCTT	ENSP00000265433.3:p.Leu743=
ENST00000396252.6:c.*2100_*2102delinsCTT	ENSP00000379551.2:n.*2100_*2102delinsCTT
ENST00000409330.5:c.1981_1983delinsCTT	ENSP00000386924.1:p.Leu661=
ENST00000474821.1:n.315_317delinsCTT
ENST00000613033.1:c.337_339delinsCTT	ENSP00000484487.1:p.Leu113=
NM_001024688.2:c.1981_1983delinsCTT	NP_001019859.1:p.Leu661=
NM_002485.4:c.2227_2229delinsCTT , LRG_158t1:c.2227_2229delinsCTT	NP_002476.2:p.Leu743=
XM_011517044.1:c.2203_2205delinsCTT	XP_011515346.1:p.Leu735=
XM_011517045.1:c.1981_1983delinsCTT	XP_011515347.1:p.Leu661=
XM_017013460.1:c.1348_1350delinsCTT	XP_016868949.1:p.Leu450=
XM_017013462.2:c.1348_1350delinsCTT	XP_016868951.1:p.Leu450=
XM_024447163.1:c.1981_1983delinsCTT	XP_024302931.1:p.Leu661=
XM_024447164.1:c.1981_1983delinsCTT	XP_024302932.1:p.Leu661=
XM_024447165.1:c.1348_1350delinsCTT	XP_024302933.1:p.Leu450=
NM_002485.5:c.2227_2229delinsCTT MANE Select	NP_002476.2:p.Leu743=
NM_001024688.3:c.1981_1983delinsCTT	NP_001019859.1:p.Leu661=