Canonical Allele Identifier: CA348289

Gene: NBN

Linked Data

• ClinVar Variation Id: 220399
• ClinVar RCV Id: RCV000204010 ; RCV003474983
• dbSNP Id: rs864622511
• MyVariant Identifiers: chr8:g.90995006del (hg19) ; chr8:g.89982778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89982778del , CM000670.2:g.89982778del	GRCh38
NC_000008.10:g.90995006del , CM000670.1:g.90995006del	GRCh37
NC_000008.9:g.91064182del	NCBI36
NG_008860.1:g.6894del , LRG_158:g.6894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.219del
ENST00000517337.2:c.-182del	ENSP00000429971.2:n.-182del
ENST00000523444.2:c.-182del	ENSP00000428252.2:n.-182del
ENST00000697292.1:c.115del	ENSP00000513229.1:p.Gln39SerfsTer10
ENST00000697293.1:c.115del	ENSP00000513230.1:p.Gln39SerfsTer10
ENST00000697294.1:c.115del	ENSP00000513231.1:p.Gln39SerfsTer10
ENST00000697295.1:c.37+1747del	ENSP00000513232.1:n.37+1747del
ENST00000697296.1:c.115del	ENSP00000513233.1:p.Gln39SerfsTer10
ENST00000697297.1:n.221del
ENST00000697298.1:c.-182del	ENSP00000513234.1:n.-182del
ENST00000697299.1:c.-75-1255del	ENSP00000513235.1:n.-75-1255del
ENST00000697300.1:c.-182del	ENSP00000513236.1:n.-182del
ENST00000697301.1:c.-182del	ENSP00000513237.1:n.-182del
ENST00000697302.1:c.115del	ENSP00000513238.1:p.Gln39SerfsTer10
ENST00000697303.1:c.115del	ENSP00000513239.1:p.Gln39SerfsTer10
ENST00000697304.1:c.115del	ENSP00000513240.1:p.Gln39SerfsTer10
ENST00000697306.1:c.115del	ENSP00000513241.1:p.Gln39SerfsTer10
ENST00000697307.1:c.115del	ENSP00000513242.1:p.Gln39SerfsTer10
ENST00000697308.1:c.115del	ENSP00000513243.1:p.Gln39SerfsTer10
ENST00000697309.1:c.115del	ENSP00000513244.1:p.Gln39SerfsTer10
ENST00000697310.1:c.115del	ENSP00000513245.1:p.Gln39SerfsTer10
ENST00000697311.1:c.115del	ENSP00000513246.1:p.Gln39SerfsTer10
ENST00000697312.1:c.115del	ENSP00000513247.1:p.Gln39SerfsTer10
ENST00000697313.1:n.227del
ENST00000697314.1:n.227del
ENST00000697315.1:c.115del	ENSP00000513248.1:p.Gln39SerfsTer10
ENST00000697316.1:n.236del
ENST00000697317.1:n.225del
ENST00000697318.1:n.227del
ENST00000265433.8:c.115del MANE Select	ENSP00000265433.4:p.Gln39SerfsTer10
ENST00000265433.7:c.115del	ENSP00000265433.3:p.Gln39SerfsTer10
ENST00000396252.6:c.115del	ENSP00000379551.2:p.Gln39SerfsTer10
ENST00000409330.5:c.-132del	ENSP00000386924.1:n.-132del
ENST00000494804.1:n.219del
ENST00000517337.1:c.-182del	ENSP00000429971.1:n.-182del
ENST00000519426.5:c.115del	ENSP00000430983.1:p.Gln39SerfsTer10
ENST00000523444.1:c.115del	ENSP00000428252.1:p.Gln39SerfsTer10
NM_001024688.2:c.-182del	NP_001019859.1:n.-182del
NM_002485.4:c.115del , LRG_158t1:c.115del	NP_002476.2:p.Gln39SerfsTer10
XM_011517044.1:c.91del	XP_011515346.1:p.Gln31SerfsTer10
XM_011517045.1:c.-182del	XP_011515347.1:n.-182del
XM_011517046.1:c.115del	XP_011515348.1:p.Gln39SerfsTer10
XR_928335.1:n.252del
XM_017013460.1:c.-905del	XP_016868949.1:n.-905del
XM_017013462.2:c.-711del	XP_016868951.1:n.-711del
XM_024447163.1:c.-132del	XP_024302931.1:n.-132del
XM_024447165.1:c.-855del	XP_024302933.1:n.-855del
NM_002485.5:c.115del MANE Select	NP_002476.2:p.Gln39SerfsTer10
NM_001024688.3:c.-182del	NP_001019859.1:n.-182del