Canonical Allele Identifier: CA658657796

Gene: NBN

Linked Data

• ClinVar Variation Id: 483951
• ClinVar RCV Id: RCV000574627 ; RCV000794401
• dbSNP Id: rs1554569106
• gnomAD v3: 8-89982803-GTTTTTCC-G
• gnomAD v4: 8-89982803-GTTTTTCC-G
• MyVariant Identifiers: chr8:g.90995032_90995038del (hg19) ; chr8:g.89982804_89982810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982806_89982812del , CM000670.2:g.89982806_89982812del	GRCh38
NC_000008.10:g.90995034_90995040del , CM000670.1:g.90995034_90995040del	GRCh37
NC_000008.9:g.91064210_91064216del	NCBI36
NG_008860.1:g.6862_6868del , LRG_158:g.6862_6868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.187_193del
ENST00000517337.2:c.-214_-208del	ENSP00000429971.2:n.-214_-208del
ENST00000523444.2:c.-214_-208del	ENSP00000428252.2:n.-214_-208del
ENST00000697292.1:c.83_89del	ENSP00000513229.1:p.Arg28ThrfsTer5
ENST00000697293.1:c.83_89del	ENSP00000513230.1:p.Arg28ThrfsTer5
ENST00000697294.1:c.83_89del	ENSP00000513231.1:p.Arg28ThrfsTer5
ENST00000697295.1:c.37+1715_37+1721del	ENSP00000513232.1:n.37+1715_37+1721del
ENST00000697296.1:c.83_89del	ENSP00000513233.1:p.Arg28ThrfsTer5
ENST00000697297.1:n.189_195del
ENST00000697298.1:c.-214_-208del	ENSP00000513234.1:n.-214_-208del
ENST00000697299.1:c.-75-1287_-75-1281del	ENSP00000513235.1:n.-75-1287_-75-1281del
ENST00000697300.1:c.-214_-208del	ENSP00000513236.1:n.-214_-208del
ENST00000697301.1:c.-214_-208del	ENSP00000513237.1:n.-214_-208del
ENST00000697302.1:c.83_89del	ENSP00000513238.1:p.Arg28ThrfsTer5
ENST00000697303.1:c.83_89del	ENSP00000513239.1:p.Arg28ThrfsTer5
ENST00000697304.1:c.83_89del	ENSP00000513240.1:p.Arg28ThrfsTer5
ENST00000697306.1:c.83_89del	ENSP00000513241.1:p.Arg28ThrfsTer5
ENST00000697307.1:c.83_89del	ENSP00000513242.1:p.Arg28ThrfsTer5
ENST00000697308.1:c.83_89del	ENSP00000513243.1:p.Arg28ThrfsTer5
ENST00000697309.1:c.83_89del	ENSP00000513244.1:p.Arg28ThrfsTer5
ENST00000697310.1:c.83_89del	ENSP00000513245.1:p.Arg28ThrfsTer5
ENST00000697311.1:c.83_89del	ENSP00000513246.1:p.Arg28ThrfsTer5
ENST00000697312.1:c.83_89del	ENSP00000513247.1:p.Arg28ThrfsTer5
ENST00000697313.1:n.195_201del
ENST00000697314.1:n.195_201del
ENST00000697315.1:c.83_89del	ENSP00000513248.1:p.Arg28ThrfsTer5
ENST00000697316.1:n.204_210del
ENST00000697317.1:n.193_199del
ENST00000697318.1:n.195_201del
ENST00000265433.8:c.83_89del MANE Select	ENSP00000265433.4:p.Arg28ThrfsTer5
ENST00000265433.7:c.83_89del	ENSP00000265433.3:p.Arg28ThrfsTer5
ENST00000396252.6:c.83_89del	ENSP00000379551.2:p.Arg28ThrfsTer5
ENST00000409330.5:c.-164_-158del	ENSP00000386924.1:n.-164_-158del
ENST00000494804.1:n.187_193del
ENST00000517337.1:c.-214_-208del	ENSP00000429971.1:n.-214_-208del
ENST00000519426.5:c.83_89del	ENSP00000430983.1:p.Arg28ThrfsTer5
ENST00000523444.1:c.83_89del	ENSP00000428252.1:p.Arg28ThrfsTer5
NM_001024688.2:c.-214_-208del	NP_001019859.1:n.-214_-208del
NM_002485.4:c.83_89del , LRG_158t1:c.83_89del	NP_002476.2:p.Arg28ThrfsTer5
XM_011517044.1:c.59_65del	XP_011515346.1:p.Arg20ThrfsTer5
XM_011517045.1:c.-214_-208del	XP_011515347.1:n.-214_-208del
XM_011517046.1:c.83_89del	XP_011515348.1:p.Arg28ThrfsTer5
XR_928335.1:n.220_226del
XM_017013460.1:c.-937_-931del	XP_016868949.1:n.-937_-931del
XM_017013462.2:c.-743_-737del	XP_016868951.1:n.-743_-737del
XM_024447163.1:c.-164_-158del	XP_024302931.1:n.-164_-158del
XM_024447165.1:c.-887_-881del	XP_024302933.1:n.-887_-881del
NM_002485.5:c.83_89del MANE Select	NP_002476.2:p.Arg28ThrfsTer5
NM_001024688.3:c.-214_-208del	NP_001019859.1:n.-214_-208del