Canonical Allele Identifier: CA2573143428

Gene: NBN

Linked Data

• ClinVar Variation Id: 1458678
• ClinVar RCV Id: RCV001956499
• dbSNP Id: rs2129829803

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970474_89970475delinsTT , CM000670.2:g.89970474_89970475delinsTT	GRCh38
NC_000008.10:g.90982702_90982703delinsTT , CM000670.1:g.90982702_90982703delinsTT	GRCh37
NC_000008.9:g.91051878_91051879delinsTT	NCBI36
NG_008860.1:g.19197_19198delinsAA , LRG_158:g.19197_19198delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2087_2088delinsAA
ENST00000517337.2:c.539_540delinsAA	ENSP00000429971.2:p.Phe180Ter
ENST00000523444.2:c.539_540delinsAA	ENSP00000428252.2:p.Phe180Ter
ENST00000697292.1:c.785_786delinsAA	ENSP00000513229.1:p.Phe262Ter
ENST00000697293.1:c.785_786delinsAA	ENSP00000513230.1:p.Phe262Ter
ENST00000697294.1:c.*396_*397delinsAA	ENSP00000513231.1:n.*396_*397delinsAA
ENST00000697295.1:c.*94_*95delinsAA	ENSP00000513232.1:n.*94_*95delinsAA
ENST00000697296.1:c.*453_*454delinsAA	ENSP00000513233.1:n.*453_*454delinsAA
ENST00000697297.1:n.2570_2571delinsAA
ENST00000697298.1:c.539_540delinsAA	ENSP00000513234.1:p.Phe180Ter
ENST00000697299.1:c.539_540delinsAA	ENSP00000513235.1:p.Phe180Ter
ENST00000697300.1:c.*389_*390delinsAA	ENSP00000513236.1:n.*389_*390delinsAA
ENST00000697301.1:c.*306_*307delinsAA	ENSP00000513237.1:n.*306_*307delinsAA
ENST00000697302.1:c.*306_*307delinsAA	ENSP00000513238.1:n.*306_*307delinsAA
ENST00000697303.1:c.*389_*390delinsAA	ENSP00000513239.1:n.*389_*390delinsAA
ENST00000697304.1:c.585-5968_585-5967delinsAA	ENSP00000513240.1:n.585-5968_585-5967delinsAA
ENST00000697306.1:c.480+10259_480+10260delinsAA	ENSP00000513241.1:n.480+10259_480+10260delinsAA
ENST00000697307.1:c.785_786delinsAA	ENSP00000513242.1:p.Phe262Ter
ENST00000697308.1:c.785_786delinsAA	ENSP00000513243.1:p.Phe262Ter
ENST00000697309.1:c.785_786delinsAA	ENSP00000513244.1:p.Phe262Ter
ENST00000697310.1:c.785_786delinsAA	ENSP00000513245.1:p.Phe262Ter
ENST00000697311.1:c.785_786delinsAA	ENSP00000513246.1:p.Phe262Ter
ENST00000697312.1:c.*183_*184delinsAA	ENSP00000513247.1:n.*183_*184delinsAA
ENST00000697313.1:n.2576_2577delinsAA
ENST00000697314.1:n.2576_2577delinsAA
ENST00000697315.1:c.785_786delinsAA	ENSP00000513248.1:p.Phe262Ter
ENST00000697316.1:n.906_907delinsAA
ENST00000697317.1:n.895_896delinsAA
ENST00000697318.1:n.897_898delinsAA
ENST00000265433.8:c.785_786delinsAA MANE Select	ENSP00000265433.4:p.Phe262Ter
ENST00000265433.7:c.785_786delinsAA	ENSP00000265433.3:p.Phe262Ter
ENST00000396252.6:c.*658_*659delinsAA	ENSP00000379551.2:n.*658_*659delinsAA
ENST00000409330.5:c.539_540delinsAA	ENSP00000386924.1:p.Phe180Ter
NM_001024688.2:c.539_540delinsAA	NP_001019859.1:p.Phe180Ter
NM_002485.4:c.785_786delinsAA , LRG_158t1:c.785_786delinsAA	NP_002476.2:p.Phe262Ter
XM_011517044.1:c.761_762delinsAA	XP_011515346.1:p.Phe254Ter
XM_011517045.1:c.539_540delinsAA	XP_011515347.1:p.Phe180Ter
XM_011517046.1:c.785_786delinsAA	XP_011515348.1:p.Phe262Ter
XR_928335.1:n.922_923delinsAA
XM_017013460.1:c.-95_-94delinsAA	XP_016868949.1:n.-95_-94delinsAA
XM_017013462.2:c.-95_-94delinsAA	XP_016868951.1:n.-95_-94delinsAA
XM_024447163.1:c.539_540delinsAA	XP_024302931.1:p.Phe180Ter
XM_024447164.1:c.539_540delinsAA	XP_024302932.1:p.Phe180Ter
XM_024447165.1:c.-95_-94delinsAA	XP_024302933.1:n.-95_-94delinsAA
NM_002485.5:c.785_786delinsAA MANE Select	NP_002476.2:p.Phe262Ter
NM_001024688.3:c.539_540delinsAA	NP_001019859.1:p.Phe180Ter