Canonical Allele Identifier: CA1801420186

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947653_89947654delinsAT , CM000670.2:g.89947653_89947654delinsAT	GRCh38
NC_000008.10:g.90959881_90959882delinsAT , CM000670.1:g.90959881_90959882delinsAT	GRCh37
NC_000008.9:g.91029057_91029058delinsAT	NCBI36
NG_008860.1:g.42018_42019delinsAT , LRG_158:g.42018_42019delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216+170_3216+171delinsAT
ENST00000517337.2:c.1668+170_1668+171delinsAT	ENSP00000429971.2:n.1668+170_1668+171delinsAT
ENST00000523444.2:c.1668+170_1668+171delinsAT	ENSP00000428252.2:n.1668+170_1668+171delinsAT
ENST00000697292.1:c.1914+170_1914+171delinsAT	ENSP00000513229.1:n.1914+170_1914+171delinsAT
ENST00000697293.1:c.1914+170_1914+171delinsAT	ENSP00000513230.1:n.1914+170_1914+171delinsAT
ENST00000697294.1:c.*1525+170_*1525+171delinsAT	ENSP00000513231.1:n.*1525+170_*1525+171delinsAT
ENST00000697295.1:c.*1223+170_*1223+171delinsAT	ENSP00000513232.1:n.*1223+170_*1223+171delinsAT
ENST00000697296.1:c.*1582+170_*1582+171delinsAT	ENSP00000513233.1:n.*1582+170_*1582+171delinsAT
ENST00000697297.1:n.3699+170_3699+171delinsAT
ENST00000697298.1:c.1668+170_1668+171delinsAT	ENSP00000513234.1:n.1668+170_1668+171delinsAT
ENST00000697299.1:c.1668+170_1668+171delinsAT	ENSP00000513235.1:n.1668+170_1668+171delinsAT
ENST00000697300.1:c.*1518+170_*1518+171delinsAT	ENSP00000513236.1:n.*1518+170_*1518+171delinsAT
ENST00000697301.1:c.*1435+170_*1435+171delinsAT	ENSP00000513237.1:n.*1435+170_*1435+171delinsAT
ENST00000697302.1:c.*1435+170_*1435+171delinsAT	ENSP00000513238.1:n.*1435+170_*1435+171delinsAT
ENST00000697303.1:c.*1518+170_*1518+171delinsAT	ENSP00000513239.1:n.*1518+170_*1518+171delinsAT
ENST00000697304.1:c.1602+170_1602+171delinsAT	ENSP00000513240.1:n.1602+170_1602+171delinsAT
ENST00000697306.1:c.*1107_*1108delinsAT	ENSP00000513241.1:n.*1107_*1108delinsAT
ENST00000697307.1:c.1846-4288_1846-4287delinsAT	ENSP00000513242.1:n.1846-4288_1846-4287delinsAT
ENST00000697308.1:c.1846-1359_1846-1358delinsAT	ENSP00000513243.1:n.1846-1359_1846-1358delinsAT
ENST00000697309.1:c.1914+170_1914+171delinsAT	ENSP00000513244.1:n.1914+170_1914+171delinsAT
ENST00000697310.1:c.1914+170_1914+171delinsAT	ENSP00000513245.1:n.1914+170_1914+171delinsAT
ENST00000697311.1:c.1914+170_1914+171delinsAT	ENSP00000513246.1:n.1914+170_1914+171delinsAT
ENST00000697312.1:c.*1312+170_*1312+171delinsAT	ENSP00000513247.1:n.*1312+170_*1312+171delinsAT
ENST00000697313.1:n.2688-12042_2688-12041delinsAT
ENST00000697314.1:n.3636+5590_3636+5591delinsAT
ENST00000697315.1:c.1914+170_1914+171delinsAT	ENSP00000513248.1:n.1914+170_1914+171delinsAT
ENST00000697316.1:n.2035+170_2035+171delinsAT
ENST00000697317.1:n.2005+189_2005+190delinsAT
ENST00000265433.8:c.1914+170_1914+171delinsAT MANE Select	ENSP00000265433.4:n.1914+170_1914+171delinsAT
ENST00000265433.7:c.1914+170_1914+171delinsAT	ENSP00000265433.3:n.1914+170_1914+171delinsAT
ENST00000396252.6:c.*1787+170_*1787+171delinsAT	ENSP00000379551.2:n.*1787+170_*1787+171delinsAT
ENST00000409330.5:c.1668+170_1668+171delinsAT	ENSP00000386924.1:n.1668+170_1668+171delinsAT
ENST00000613033.1:c.180+170_180+171delinsAT	ENSP00000484487.1:n.180+170_180+171delinsAT
NM_001024688.2:c.1668+170_1668+171delinsAT	NP_001019859.1:n.1668+170_1668+171delinsAT
NM_002485.4:c.1914+170_1914+171delinsAT , LRG_158t1:c.1914+170_1914+171delinsAT	NP_002476.2:n.1914+170_1914+171delinsAT
XM_011517044.1:c.1890+170_1890+171delinsAT	XP_011515346.1:n.1890+170_1890+171delinsAT
XM_011517045.1:c.1668+170_1668+171delinsAT	XP_011515347.1:n.1668+170_1668+171delinsAT
XR_928335.1:n.2053+170_2053+171delinsAT
XM_017013460.1:c.1035+170_1035+171delinsAT	XP_016868949.1:n.1035+170_1035+171delinsAT
XM_017013462.2:c.1035+170_1035+171delinsAT	XP_016868951.1:n.1035+170_1035+171delinsAT
XM_024447163.1:c.1668+170_1668+171delinsAT	XP_024302931.1:n.1668+170_1668+171delinsAT
XM_024447164.1:c.1668+170_1668+171delinsAT	XP_024302932.1:n.1668+170_1668+171delinsAT
XM_024447165.1:c.1035+170_1035+171delinsAT	XP_024302933.1:n.1035+170_1035+171delinsAT
NM_002485.5:c.1914+170_1914+171delinsAT MANE Select	NP_002476.2:n.1914+170_1914+171delinsAT
NM_001024688.3:c.1668+170_1668+171delinsAT	NP_001019859.1:n.1668+170_1668+171delinsAT