Canonical Allele Identifier: CA1801424045

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955274_89955279del , CM000670.2:g.89955274_89955279del	GRCh38
NC_000008.10:g.90967502_90967507del , CM000670.1:g.90967502_90967507del	GRCh37
NC_000008.9:g.91036678_91036683del	NCBI36
NG_008860.1:g.34395_34400del , LRG_158:g.34395_34400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2699+6_2699+11del
ENST00000517337.2:c.1151+6_1151+11del	ENSP00000429971.2:n.1151+6_1151+11del
ENST00000523444.2:c.1151+6_1151+11del	ENSP00000428252.2:n.1151+6_1151+11del
ENST00000697292.1:c.1397+6_1397+11del	ENSP00000513229.1:n.1397+6_1397+11del
ENST00000697293.1:c.1397+6_1397+11del	ENSP00000513230.1:n.1397+6_1397+11del
ENST00000697294.1:c.*1008+6_*1008+11del	ENSP00000513231.1:n.*1008+6_*1008+11del
ENST00000697295.1:c.*706+6_*706+11del	ENSP00000513232.1:n.*706+6_*706+11del
ENST00000697296.1:c.*1065+6_*1065+11del	ENSP00000513233.1:n.*1065+6_*1065+11del
ENST00000697297.1:n.3182+6_3182+11del
ENST00000697298.1:c.1151+6_1151+11del	ENSP00000513234.1:n.1151+6_1151+11del
ENST00000697299.1:c.1151+6_1151+11del	ENSP00000513235.1:n.1151+6_1151+11del
ENST00000697300.1:c.*1001+6_*1001+11del	ENSP00000513236.1:n.*1001+6_*1001+11del
ENST00000697301.1:c.*918+6_*918+11del	ENSP00000513237.1:n.*918+6_*918+11del
ENST00000697302.1:c.*918+6_*918+11del	ENSP00000513238.1:n.*918+6_*918+11del
ENST00000697303.1:c.*1001+6_*1001+11del	ENSP00000513239.1:n.*1001+6_*1001+11del
ENST00000697304.1:c.1085+6_1085+11del	ENSP00000513240.1:n.1085+6_1085+11del
ENST00000697306.1:c.*397+6_*397+11del	ENSP00000513241.1:n.*397+6_*397+11del
ENST00000697307.1:c.1397+6_1397+11del	ENSP00000513242.1:n.1397+6_1397+11del
ENST00000697308.1:c.1397+6_1397+11del	ENSP00000513243.1:n.1397+6_1397+11del
ENST00000697309.1:c.1397+6_1397+11del	ENSP00000513244.1:n.1397+6_1397+11del
ENST00000697310.1:c.1397+6_1397+11del	ENSP00000513245.1:n.1397+6_1397+11del
ENST00000697311.1:c.1397+6_1397+11del	ENSP00000513246.1:n.1397+6_1397+11del
ENST00000697312.1:c.*795+6_*795+11del	ENSP00000513247.1:n.*795+6_*795+11del
ENST00000697313.1:n.2687+15087_2687+15092del
ENST00000697314.1:n.3188+6_3188+11del
ENST00000697315.1:c.1397+6_1397+11del	ENSP00000513248.1:n.1397+6_1397+11del
ENST00000697316.1:n.1518+6_1518+11del
ENST00000697317.1:n.1507+6_1507+11del
ENST00000697318.1:n.1509+6_1509+11del
ENST00000265433.8:c.1397+6_1397+11del MANE Select	ENSP00000265433.4:n.1397+6_1397+11del
ENST00000265433.7:c.1397+6_1397+11del	ENSP00000265433.3:n.1397+6_1397+11del
ENST00000396252.6:c.*1270+6_*1270+11del	ENSP00000379551.2:n.*1270+6_*1270+11del
ENST00000409330.5:c.1151+6_1151+11del	ENSP00000386924.1:n.1151+6_1151+11del
NM_001024688.2:c.1151+6_1151+11del	NP_001019859.1:n.1151+6_1151+11del
NM_002485.4:c.1397+6_1397+11del , LRG_158t1:c.1397+6_1397+11del	NP_002476.2:n.1397+6_1397+11del
XM_011517044.1:c.1373+6_1373+11del	XP_011515346.1:n.1373+6_1373+11del
XM_011517045.1:c.1151+6_1151+11del	XP_011515347.1:n.1151+6_1151+11del
XM_011517046.1:c.1395+8_1395+13del	XP_011515348.1:n.1395+8_1395+13del
XR_928335.1:n.1533+7_1533+12del
XM_017013460.1:c.518+6_518+11del	XP_016868949.1:n.518+6_518+11del
XM_017013462.2:c.518+6_518+11del	XP_016868951.1:n.518+6_518+11del
XM_024447163.1:c.1151+6_1151+11del	XP_024302931.1:n.1151+6_1151+11del
XM_024447164.1:c.1151+6_1151+11del	XP_024302932.1:n.1151+6_1151+11del
XM_024447165.1:c.518+6_518+11del	XP_024302933.1:n.518+6_518+11del
NM_002485.5:c.1397+6_1397+11del MANE Select	NP_002476.2:n.1397+6_1397+11del
NM_001024688.3:c.1151+6_1151+11del	NP_001019859.1:n.1151+6_1151+11del