Canonical Allele Identifier: CA4802882

Gene: NBN

Linked Data

• ClinVar Variation Id: 2503986
• ClinVar RCV Id: RCV003230977
• dbSNP Id: rs751497896
• ExAC: 8:90982684 CG / C
• gnomAD v2: 8-90982684-CG-C
• MyVariant Identifiers: chr8:g.90982685del (hg19) ; chr8:g.89970457del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970457del , CM000670.2:g.89970457del	GRCh38
NC_000008.10:g.90982685del , CM000670.1:g.90982685del	GRCh37
NC_000008.9:g.91051861del	NCBI36
NG_008860.1:g.19215del , LRG_158:g.19215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2105del
ENST00000517337.2:c.557del	ENSP00000429971.2:p.Thr186SerfsTer8
ENST00000523444.2:c.557del	ENSP00000428252.2:p.Thr186SerfsTer8
ENST00000697292.1:c.803del	ENSP00000513229.1:p.Thr268SerfsTer8
ENST00000697293.1:c.803del	ENSP00000513230.1:p.Thr268SerfsTer8
ENST00000697294.1:c.*414del	ENSP00000513231.1:n.*414del
ENST00000697295.1:c.*112del	ENSP00000513232.1:n.*112del
ENST00000697296.1:c.*471del	ENSP00000513233.1:n.*471del
ENST00000697297.1:n.2588del
ENST00000697298.1:c.557del	ENSP00000513234.1:p.Thr186SerfsTer8
ENST00000697299.1:c.557del	ENSP00000513235.1:p.Thr186SerfsTer8
ENST00000697300.1:c.*407del	ENSP00000513236.1:n.*407del
ENST00000697301.1:c.*324del	ENSP00000513237.1:n.*324del
ENST00000697302.1:c.*324del	ENSP00000513238.1:n.*324del
ENST00000697303.1:c.*407del	ENSP00000513239.1:n.*407del
ENST00000697304.1:c.585-5950del	ENSP00000513240.1:n.585-5950del
ENST00000697306.1:c.480+10277del	ENSP00000513241.1:n.480+10277del
ENST00000697307.1:c.803del	ENSP00000513242.1:p.Thr268SerfsTer8
ENST00000697308.1:c.803del	ENSP00000513243.1:p.Thr268SerfsTer8
ENST00000697309.1:c.803del	ENSP00000513244.1:p.Thr268SerfsTer8
ENST00000697310.1:c.803del	ENSP00000513245.1:p.Thr268SerfsTer8
ENST00000697311.1:c.803del	ENSP00000513246.1:p.Thr268SerfsTer8
ENST00000697312.1:c.*201del	ENSP00000513247.1:n.*201del
ENST00000697313.1:n.2594del
ENST00000697314.1:n.2594del
ENST00000697315.1:c.803del	ENSP00000513248.1:p.Thr268SerfsTer8
ENST00000697316.1:n.924del
ENST00000697317.1:n.913del
ENST00000697318.1:n.915del
ENST00000265433.8:c.803del MANE Select	ENSP00000265433.4:p.Thr268SerfsTer8
ENST00000265433.7:c.803del	ENSP00000265433.3:p.Thr268SerfsTer8
ENST00000396252.6:c.*676del	ENSP00000379551.2:n.*676del
ENST00000409330.5:c.557del	ENSP00000386924.1:p.Thr186SerfsTer8
NM_001024688.2:c.557del	NP_001019859.1:p.Thr186SerfsTer8
NM_002485.4:c.803del , LRG_158t1:c.803del	NP_002476.2:p.Thr268SerfsTer8
XM_011517044.1:c.779del	XP_011515346.1:p.Thr260SerfsTer8
XM_011517045.1:c.557del	XP_011515347.1:p.Thr186SerfsTer8
XM_011517046.1:c.803del	XP_011515348.1:p.Thr268SerfsTer8
XR_928335.1:n.940del
XM_017013460.1:c.-77del	XP_016868949.1:n.-77del
XM_017013462.2:c.-77del	XP_016868951.1:n.-77del
XM_024447163.1:c.557del	XP_024302931.1:p.Thr186SerfsTer8
XM_024447164.1:c.557del	XP_024302932.1:p.Thr186SerfsTer8
XM_024447165.1:c.-77del	XP_024302933.1:n.-77del
NM_002485.5:c.803del MANE Select	NP_002476.2:p.Thr268SerfsTer8
NM_001024688.3:c.557del	NP_001019859.1:p.Thr186SerfsTer8