Canonical Allele Identifier: CA4802820

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89958880_89958883del , CM000670.2:g.89958880_89958883del	GRCh38
NC_000008.10:g.90971108_90971111del , CM000670.1:g.90971108_90971111del	GRCh37
NC_000008.9:g.91040284_91040287del	NCBI36
NG_008860.1:g.30797_30800del , LRG_158:g.30797_30800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2297-21_2297-18del
ENST00000517337.2:c.749-21_749-18del	ENSP00000429971.2:n.749-21_749-18del
ENST00000523444.2:c.749-21_749-18del	ENSP00000428252.2:n.749-21_749-18del
ENST00000697292.1:c.995-21_995-18del	ENSP00000513229.1:n.995-21_995-18del
ENST00000697293.1:c.995-21_995-18del	ENSP00000513230.1:n.995-21_995-18del
ENST00000697294.1:c.*606-21_*606-18del	ENSP00000513231.1:n.*606-21_*606-18del
ENST00000697295.1:c.*304-21_*304-18del	ENSP00000513232.1:n.*304-21_*304-18del
ENST00000697296.1:c.*663-21_*663-18del	ENSP00000513233.1:n.*663-21_*663-18del
ENST00000697297.1:n.2780-21_2780-18del
ENST00000697298.1:c.749-21_749-18del	ENSP00000513234.1:n.749-21_749-18del
ENST00000697299.1:c.749-21_749-18del	ENSP00000513235.1:n.749-21_749-18del
ENST00000697300.1:c.*599-21_*599-18del	ENSP00000513236.1:n.*599-21_*599-18del
ENST00000697301.1:c.*516-21_*516-18del	ENSP00000513237.1:n.*516-21_*516-18del
ENST00000697302.1:c.*516-21_*516-18del	ENSP00000513238.1:n.*516-21_*516-18del
ENST00000697303.1:c.*599-21_*599-18del	ENSP00000513239.1:n.*599-21_*599-18del
ENST00000697304.1:c.683-21_683-18del	ENSP00000513240.1:n.683-21_683-18del
ENST00000697306.1:c.481-21_481-18del	ENSP00000513241.1:n.481-21_481-18del
ENST00000697307.1:c.995-21_995-18del	ENSP00000513242.1:n.995-21_995-18del
ENST00000697308.1:c.995-21_995-18del	ENSP00000513243.1:n.995-21_995-18del
ENST00000697309.1:c.995-21_995-18del	ENSP00000513244.1:n.995-21_995-18del
ENST00000697310.1:c.995-21_995-18del	ENSP00000513245.1:n.995-21_995-18del
ENST00000697311.1:c.995-21_995-18del	ENSP00000513246.1:n.995-21_995-18del
ENST00000697312.1:c.*393-21_*393-18del	ENSP00000513247.1:n.*393-21_*393-18del
ENST00000697313.1:n.2687+11489_2687+11492del
ENST00000697314.1:n.2786-21_2786-18del
ENST00000697315.1:c.995-21_995-18del	ENSP00000513248.1:n.995-21_995-18del
ENST00000697316.1:n.1116-21_1116-18del
ENST00000697317.1:n.1105-21_1105-18del
ENST00000697318.1:n.1107-21_1107-18del
ENST00000265433.8:c.995-21_995-18del MANE Select	ENSP00000265433.4:n.995-21_995-18del
ENST00000265433.7:c.995-21_995-18del	ENSP00000265433.3:n.995-21_995-18del
ENST00000396252.6:c.*868-21_*868-18del	ENSP00000379551.2:n.*868-21_*868-18del
ENST00000409330.5:c.749-21_749-18del	ENSP00000386924.1:n.749-21_749-18del
NM_001024688.2:c.749-21_749-18del	NP_001019859.1:n.749-21_749-18del
NM_002485.4:c.995-21_995-18del , LRG_158t1:c.995-21_995-18del	NP_002476.2:n.995-21_995-18del
XM_011517044.1:c.971-21_971-18del	XP_011515346.1:n.971-21_971-18del
XM_011517045.1:c.749-21_749-18del	XP_011515347.1:n.749-21_749-18del
XM_011517046.1:c.995-21_995-18del	XP_011515348.1:n.995-21_995-18del
XR_928335.1:n.1132-21_1132-18del
XM_017013460.1:c.116-21_116-18del	XP_016868949.1:n.116-21_116-18del
XM_017013462.2:c.116-21_116-18del	XP_016868951.1:n.116-21_116-18del
XM_024447163.1:c.749-21_749-18del	XP_024302931.1:n.749-21_749-18del
XM_024447164.1:c.749-21_749-18del	XP_024302932.1:n.749-21_749-18del
XM_024447165.1:c.116-21_116-18del	XP_024302933.1:n.116-21_116-18del
NM_002485.5:c.995-21_995-18del MANE Select	NP_002476.2:n.995-21_995-18del
NM_001024688.3:c.749-21_749-18del	NP_001019859.1:n.749-21_749-18del