Canonical Allele Identifier: CA2717851654

Gene: NBN

Linked Data

• dbSNP Id: rs2129702175

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953585del , CM000670.2:g.89953585del	GRCh38
NC_000008.10:g.90965813del , CM000670.1:g.90965813del	GRCh37
NC_000008.9:g.91034989del	NCBI36
NG_008860.1:g.36091del , LRG_158:g.36091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2810del
ENST00000517337.2:c.1262del	ENSP00000429971.2:p.Asn421IlefsTer26
ENST00000523444.2:c.1262del	ENSP00000428252.2:p.Asn421IlefsTer26
ENST00000697292.1:c.1508del	ENSP00000513229.1:p.Asn503IlefsTer26
ENST00000697293.1:c.1508del	ENSP00000513230.1:p.Asn503IlefsTer26
ENST00000697294.1:c.*1119del	ENSP00000513231.1:n.*1119del
ENST00000697295.1:c.*817del	ENSP00000513232.1:n.*817del
ENST00000697296.1:c.*1176del	ENSP00000513233.1:n.*1176del
ENST00000697297.1:n.3293del
ENST00000697298.1:c.1262del	ENSP00000513234.1:p.Asn421IlefsTer26
ENST00000697299.1:c.1262del	ENSP00000513235.1:p.Asn421IlefsTer26
ENST00000697300.1:c.*1112del	ENSP00000513236.1:n.*1112del
ENST00000697301.1:c.*1029del	ENSP00000513237.1:n.*1029del
ENST00000697302.1:c.*1029del	ENSP00000513238.1:n.*1029del
ENST00000697303.1:c.*1112del	ENSP00000513239.1:n.*1112del
ENST00000697304.1:c.1196del	ENSP00000513240.1:p.Asn399IlefsTer26
ENST00000697306.1:c.*508del	ENSP00000513241.1:n.*508del
ENST00000697307.1:c.1508del	ENSP00000513242.1:p.Asn503IlefsTer26
ENST00000697308.1:c.1508del	ENSP00000513243.1:p.Asn503IlefsTer26
ENST00000697309.1:c.1508del	ENSP00000513244.1:p.Asn503IlefsTer26
ENST00000697310.1:c.1508del	ENSP00000513245.1:p.Asn503IlefsTer26
ENST00000697311.1:c.1508del	ENSP00000513246.1:p.Asn503IlefsTer26
ENST00000697312.1:c.*906del	ENSP00000513247.1:n.*906del
ENST00000697313.1:n.2687+16783del
ENST00000697314.1:n.3299del
ENST00000697315.1:c.1508del	ENSP00000513248.1:p.Asn503IlefsTer26
ENST00000697316.1:n.1629del
ENST00000697317.1:n.1618del
ENST00000697318.1:n.1620del
ENST00000265433.8:c.1508del MANE Select	ENSP00000265433.4:p.Asn503IlefsTer26
ENST00000265433.7:c.1508del	ENSP00000265433.3:p.Asn503IlefsTer26
ENST00000396252.6:c.*1381del	ENSP00000379551.2:n.*1381del
ENST00000409330.5:c.1262del	ENSP00000386924.1:p.Asn421IlefsTer26
NM_001024688.2:c.1262del	NP_001019859.1:p.Asn421IlefsTer26
NM_002485.4:c.1508del , LRG_158t1:c.1508del	NP_002476.2:p.Asn503IlefsTer26
XM_011517044.1:c.1484del	XP_011515346.1:p.Asn495IlefsTer26
XM_011517045.1:c.1262del	XP_011515347.1:p.Asn421IlefsTer26
XR_928335.1:n.1647del
XM_017013460.1:c.629del	XP_016868949.1:p.Asn210IlefsTer26
XM_017013462.2:c.629del	XP_016868951.1:p.Asn210IlefsTer26
XM_024447163.1:c.1262del	XP_024302931.1:p.Asn421IlefsTer26
XM_024447164.1:c.1262del	XP_024302932.1:p.Asn421IlefsTer26
XM_024447165.1:c.629del	XP_024302933.1:p.Asn210IlefsTer26
NM_002485.5:c.1508del MANE Select	NP_002476.2:p.Asn503IlefsTer26
NM_001024688.3:c.1262del	NP_001019859.1:p.Asn421IlefsTer26