Canonical Allele Identifier: CA181268894

Gene: NBN

Linked Data

• dbSNP Id: rs868355628

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964430_89964431delinsAA , CM000670.2:g.89964430_89964431delinsAA	GRCh38
NC_000008.10:g.90976658_90976659delinsAA , CM000670.1:g.90976658_90976659delinsAA	GRCh37
NC_000008.9:g.91045834_91045835delinsAA	NCBI36
NG_008860.1:g.25241_25242delinsTT , LRG_158:g.25241_25242delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2275_2276delinsTT
ENST00000517337.2:c.727_728delinsTT	ENSP00000429971.2:p.Pro243Phe
ENST00000523444.2:c.727_728delinsTT	ENSP00000428252.2:p.Pro243Phe
ENST00000697292.1:c.973_974delinsTT	ENSP00000513229.1:p.Pro325Phe
ENST00000697293.1:c.973_974delinsTT	ENSP00000513230.1:p.Pro325Phe
ENST00000697294.1:c.*584_*585delinsTT	ENSP00000513231.1:n.*584_*585delinsTT
ENST00000697295.1:c.*282_*283delinsTT	ENSP00000513232.1:n.*282_*283delinsTT
ENST00000697296.1:c.*641_*642delinsTT	ENSP00000513233.1:n.*641_*642delinsTT
ENST00000697297.1:n.2758_2759delinsTT
ENST00000697298.1:c.727_728delinsTT	ENSP00000513234.1:p.Pro243Phe
ENST00000697299.1:c.727_728delinsTT	ENSP00000513235.1:p.Pro243Phe
ENST00000697300.1:c.*577_*578delinsTT	ENSP00000513236.1:n.*577_*578delinsTT
ENST00000697301.1:c.*494_*495delinsTT	ENSP00000513237.1:n.*494_*495delinsTT
ENST00000697302.1:c.*494_*495delinsTT	ENSP00000513238.1:n.*494_*495delinsTT
ENST00000697303.1:c.*577_*578delinsTT	ENSP00000513239.1:n.*577_*578delinsTT
ENST00000697304.1:c.661_662delinsTT	ENSP00000513240.1:p.Pro221Phe
ENST00000697306.1:c.481-5577_481-5576delinsTT	ENSP00000513241.1:n.481-5577_481-5576delinsTT
ENST00000697307.1:c.973_974delinsTT	ENSP00000513242.1:p.Pro325Phe
ENST00000697308.1:c.973_974delinsTT	ENSP00000513243.1:p.Pro325Phe
ENST00000697309.1:c.973_974delinsTT	ENSP00000513244.1:p.Pro325Phe
ENST00000697310.1:c.973_974delinsTT	ENSP00000513245.1:p.Pro325Phe
ENST00000697311.1:c.973_974delinsTT	ENSP00000513246.1:p.Pro325Phe
ENST00000697312.1:c.*371_*372delinsTT	ENSP00000513247.1:n.*371_*372delinsTT
ENST00000697313.1:n.2687+5933_2687+5934delinsTT
ENST00000697314.1:n.2764_2765delinsTT
ENST00000697315.1:c.973_974delinsTT	ENSP00000513248.1:p.Pro325Phe
ENST00000697316.1:n.1094_1095delinsTT
ENST00000697317.1:n.1083_1084delinsTT
ENST00000697318.1:n.1085_1086delinsTT
ENST00000265433.8:c.973_974delinsTT MANE Select	ENSP00000265433.4:p.Pro325Phe
ENST00000265433.7:c.973_974delinsTT	ENSP00000265433.3:p.Pro325Phe
ENST00000396252.6:c.*846_*847delinsTT	ENSP00000379551.2:n.*846_*847delinsTT
ENST00000409330.5:c.727_728delinsTT	ENSP00000386924.1:p.Pro243Phe
NM_001024688.2:c.727_728delinsTT	NP_001019859.1:p.Pro243Phe
NM_002485.4:c.973_974delinsTT , LRG_158t1:c.973_974delinsTT	NP_002476.2:p.Pro325Phe
XM_011517044.1:c.949_950delinsTT	XP_011515346.1:p.Pro317Phe
XM_011517045.1:c.727_728delinsTT	XP_011515347.1:p.Pro243Phe
XM_011517046.1:c.973_974delinsTT	XP_011515348.1:p.Pro325Phe
XR_928335.1:n.1110_1111delinsTT
XM_017013460.1:c.94_95delinsTT	XP_016868949.1:p.Pro32Phe
XM_017013462.2:c.94_95delinsTT	XP_016868951.1:p.Pro32Phe
XM_024447163.1:c.727_728delinsTT	XP_024302931.1:p.Pro243Phe
XM_024447164.1:c.727_728delinsTT	XP_024302932.1:p.Pro243Phe
XM_024447165.1:c.94_95delinsTT	XP_024302933.1:p.Pro32Phe
NM_002485.5:c.973_974delinsTT MANE Select	NP_002476.2:p.Pro325Phe
NM_001024688.3:c.727_728delinsTT	NP_001019859.1:p.Pro243Phe