Canonical Allele Identifier: CA2687853903

Gene: NBN

Linked Data

• gnomAD v4: 8-89946170-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946172del , CM000670.2:g.89946172del	GRCh38
NC_000008.10:g.90958400del , CM000670.1:g.90958400del	GRCh37
NC_000008.9:g.91027576del	NCBI36
NG_008860.1:g.43501del , LRG_158:g.43501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3341del
ENST00000517337.2:c.1793del	ENSP00000429971.2:p.Gly598ValfsTer3
ENST00000523444.2:c.1793del	ENSP00000428252.2:p.Gly598ValfsTer3
ENST00000697292.1:c.2039del	ENSP00000513229.1:p.Gly680ValfsTer3
ENST00000697293.1:c.2039del	ENSP00000513230.1:p.Gly680ValfsTer3
ENST00000697294.1:c.*1650del	ENSP00000513231.1:n.*1650del
ENST00000697295.1:c.*1348del	ENSP00000513232.1:n.*1348del
ENST00000697296.1:c.*1707del	ENSP00000513233.1:n.*1707del
ENST00000697297.1:n.3824del
ENST00000697298.1:c.1793del	ENSP00000513234.1:p.Gly598ValfsTer3
ENST00000697299.1:c.1793del	ENSP00000513235.1:p.Gly598ValfsTer3
ENST00000697300.1:c.*1643del	ENSP00000513236.1:n.*1643del
ENST00000697301.1:c.*1560del	ENSP00000513237.1:n.*1560del
ENST00000697302.1:c.*1560del	ENSP00000513238.1:n.*1560del
ENST00000697303.1:c.*1643del	ENSP00000513239.1:n.*1643del
ENST00000697304.1:c.1727del	ENSP00000513240.1:p.Gly576ValfsTer3
ENST00000697306.1:c.*2590del	ENSP00000513241.1:n.*2590del
ENST00000697307.1:c.1846-2805del	ENSP00000513242.1:n.1846-2805del
ENST00000697308.1:c.1970del	ENSP00000513243.1:p.Gly657ValfsTer3
ENST00000697309.1:c.2039del	ENSP00000513244.1:p.Gly680ValfsTer3
ENST00000697310.1:c.2039del	ENSP00000513245.1:p.Gly680ValfsTer3
ENST00000697311.1:c.2039del	ENSP00000513246.1:p.Gly680ValfsTer3
ENST00000697312.1:c.*1437del	ENSP00000513247.1:n.*1437del
ENST00000697313.1:n.2688-10559del
ENST00000697314.1:n.3636+7073del
ENST00000697315.1:c.2039del	ENSP00000513248.1:p.Gly680ValfsTer3
ENST00000697316.1:n.2160del
ENST00000697317.1:n.2130del
ENST00000265433.8:c.2039del MANE Select	ENSP00000265433.4:p.Gly680ValfsTer3
ENST00000265433.7:c.2039del	ENSP00000265433.3:p.Gly680ValfsTer3
ENST00000396252.6:c.*1912del	ENSP00000379551.2:n.*1912del
ENST00000409330.5:c.1793del	ENSP00000386924.1:p.Gly598ValfsTer3
ENST00000520325.1:n.455del
ENST00000613033.1:c.180+1653del	ENSP00000484487.1:n.180+1653del
NM_001024688.2:c.1793del	NP_001019859.1:p.Gly598ValfsTer3
NM_002485.4:c.2039del , LRG_158t1:c.2039del	NP_002476.2:p.Gly680ValfsTer3
XM_011517044.1:c.2015del	XP_011515346.1:p.Gly672ValfsTer3
XM_011517045.1:c.1793del	XP_011515347.1:p.Gly598ValfsTer3
XM_017013460.1:c.1160del	XP_016868949.1:p.Gly387ValfsTer3
XM_017013462.2:c.1160del	XP_016868951.1:p.Gly387ValfsTer3
XM_024447163.1:c.1793del	XP_024302931.1:p.Gly598ValfsTer3
XM_024447164.1:c.1793del	XP_024302932.1:p.Gly598ValfsTer3
XM_024447165.1:c.1160del	XP_024302933.1:p.Gly387ValfsTer3
NM_002485.5:c.2039del MANE Select	NP_002476.2:p.Gly680ValfsTer3
NM_001024688.3:c.1793del	NP_001019859.1:p.Gly598ValfsTer3