Canonical Allele Identifier: CA1801420212

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947711_89947712delinsTA , CM000670.2:g.89947711_89947712delinsTA	GRCh38
NC_000008.10:g.90959939_90959940delinsTA , CM000670.1:g.90959939_90959940delinsTA	GRCh37
NC_000008.9:g.91029115_91029116delinsTA	NCBI36
NG_008860.1:g.41960_41961delinsTA , LRG_158:g.41960_41961delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3216+112_3216+113delinsTA
ENST00000517337.2:c.1668+112_1668+113delinsTA	ENSP00000429971.2:n.1668+112_1668+113delinsTA
ENST00000523444.2:c.1668+112_1668+113delinsTA	ENSP00000428252.2:n.1668+112_1668+113delinsTA
ENST00000697292.1:c.1914+112_1914+113delinsTA	ENSP00000513229.1:n.1914+112_1914+113delinsTA
ENST00000697293.1:c.1914+112_1914+113delinsTA	ENSP00000513230.1:n.1914+112_1914+113delinsTA
ENST00000697294.1:c.*1525+112_*1525+113delinsTA	ENSP00000513231.1:n.*1525+112_*1525+113delinsTA
ENST00000697295.1:c.*1223+112_*1223+113delinsTA	ENSP00000513232.1:n.*1223+112_*1223+113delinsTA
ENST00000697296.1:c.*1582+112_*1582+113delinsTA	ENSP00000513233.1:n.*1582+112_*1582+113delinsTA
ENST00000697297.1:n.3699+112_3699+113delinsTA
ENST00000697298.1:c.1668+112_1668+113delinsTA	ENSP00000513234.1:n.1668+112_1668+113delinsTA
ENST00000697299.1:c.1668+112_1668+113delinsTA	ENSP00000513235.1:n.1668+112_1668+113delinsTA
ENST00000697300.1:c.*1518+112_*1518+113delinsTA	ENSP00000513236.1:n.*1518+112_*1518+113delinsTA
ENST00000697301.1:c.*1435+112_*1435+113delinsTA	ENSP00000513237.1:n.*1435+112_*1435+113delinsTA
ENST00000697302.1:c.*1435+112_*1435+113delinsTA	ENSP00000513238.1:n.*1435+112_*1435+113delinsTA
ENST00000697303.1:c.*1518+112_*1518+113delinsTA	ENSP00000513239.1:n.*1518+112_*1518+113delinsTA
ENST00000697304.1:c.1602+112_1602+113delinsTA	ENSP00000513240.1:n.1602+112_1602+113delinsTA
ENST00000697306.1:c.*1049_*1050delinsTA	ENSP00000513241.1:n.*1049_*1050delinsTA
ENST00000697307.1:c.1846-4346_1846-4345delinsTA	ENSP00000513242.1:n.1846-4346_1846-4345delinsTA
ENST00000697308.1:c.1846-1417_1846-1416delinsTA	ENSP00000513243.1:n.1846-1417_1846-1416delinsTA
ENST00000697309.1:c.1914+112_1914+113delinsTA	ENSP00000513244.1:n.1914+112_1914+113delinsTA
ENST00000697310.1:c.1914+112_1914+113delinsTA	ENSP00000513245.1:n.1914+112_1914+113delinsTA
ENST00000697311.1:c.1914+112_1914+113delinsTA	ENSP00000513246.1:n.1914+112_1914+113delinsTA
ENST00000697312.1:c.*1312+112_*1312+113delinsTA	ENSP00000513247.1:n.*1312+112_*1312+113delinsTA
ENST00000697313.1:n.2688-12100_2688-12099delinsTA
ENST00000697314.1:n.3636+5532_3636+5533delinsTA
ENST00000697315.1:c.1914+112_1914+113delinsTA	ENSP00000513248.1:n.1914+112_1914+113delinsTA
ENST00000697316.1:n.2035+112_2035+113delinsTA
ENST00000697317.1:n.2005+131_2005+132delinsTA
ENST00000265433.8:c.1914+112_1914+113delinsTA MANE Select	ENSP00000265433.4:n.1914+112_1914+113delinsTA
ENST00000265433.7:c.1914+112_1914+113delinsTA	ENSP00000265433.3:n.1914+112_1914+113delinsTA
ENST00000396252.6:c.*1787+112_*1787+113delinsTA	ENSP00000379551.2:n.*1787+112_*1787+113delinsTA
ENST00000409330.5:c.1668+112_1668+113delinsTA	ENSP00000386924.1:n.1668+112_1668+113delinsTA
ENST00000613033.1:c.180+112_180+113delinsTA	ENSP00000484487.1:n.180+112_180+113delinsTA
NM_001024688.2:c.1668+112_1668+113delinsTA	NP_001019859.1:n.1668+112_1668+113delinsTA
NM_002485.4:c.1914+112_1914+113delinsTA , LRG_158t1:c.1914+112_1914+113delinsTA	NP_002476.2:n.1914+112_1914+113delinsTA
XM_011517044.1:c.1890+112_1890+113delinsTA	XP_011515346.1:n.1890+112_1890+113delinsTA
XM_011517045.1:c.1668+112_1668+113delinsTA	XP_011515347.1:n.1668+112_1668+113delinsTA
XR_928335.1:n.2053+112_2053+113delinsTA
XM_017013460.1:c.1035+112_1035+113delinsTA	XP_016868949.1:n.1035+112_1035+113delinsTA
XM_017013462.2:c.1035+112_1035+113delinsTA	XP_016868951.1:n.1035+112_1035+113delinsTA
XM_024447163.1:c.1668+112_1668+113delinsTA	XP_024302931.1:n.1668+112_1668+113delinsTA
XM_024447164.1:c.1668+112_1668+113delinsTA	XP_024302932.1:n.1668+112_1668+113delinsTA
XM_024447165.1:c.1035+112_1035+113delinsTA	XP_024302933.1:n.1035+112_1035+113delinsTA
NM_002485.5:c.1914+112_1914+113delinsTA MANE Select	NP_002476.2:n.1914+112_1914+113delinsTA
NM_001024688.3:c.1668+112_1668+113delinsTA	NP_001019859.1:n.1668+112_1668+113delinsTA