Canonical Allele Identifier: CA2573143438

Gene: NBN

Linked Data

• ClinVar Variation Id: 1452434
• ClinVar RCV Id: RCV002037656 ; RCV003475213
• dbSNP Id: rs2129938178

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984541_89984550del , CM000670.2:g.89984541_89984550del	GRCh38
NC_000008.10:g.90996769_90996778del , CM000670.1:g.90996769_90996778del	GRCh37
NC_000008.9:g.91065945_91065954del	NCBI36
NG_008860.1:g.5124_5133del , LRG_158:g.5124_5133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.118_127del
ENST00000523444.2:c.-283_-274del	ENSP00000428252.2:n.-283_-274del
ENST00000697292.1:c.14_23del	ENSP00000513229.1:p.Leu5ArgfsTer12
ENST00000697293.1:c.14_23del	ENSP00000513230.1:p.Leu5ArgfsTer12
ENST00000697294.1:c.14_23del	ENSP00000513231.1:p.Leu5ArgfsTer12
ENST00000697295.1:c.14_23del	ENSP00000513232.1:p.Leu5ArgfsTer11
ENST00000697296.1:c.14_23del	ENSP00000513233.1:p.Leu5ArgfsTer12
ENST00000697297.1:n.120_129del
ENST00000697298.1:c.-466_-457del	ENSP00000513234.1:n.-466_-457del
ENST00000697299.1:c.-99_-90del	ENSP00000513235.1:n.-99_-90del
ENST00000697300.1:c.-283_-274del	ENSP00000513236.1:n.-283_-274del
ENST00000697301.1:c.-283_-274del	ENSP00000513237.1:n.-283_-274del
ENST00000697302.1:c.14_23del	ENSP00000513238.1:p.Leu5ArgfsTer12
ENST00000697303.1:c.14_23del	ENSP00000513239.1:p.Leu5ArgfsTer12
ENST00000697304.1:c.14_23del	ENSP00000513240.1:p.Leu5ArgfsTer12
ENST00000697306.1:c.14_23del	ENSP00000513241.1:p.Leu5ArgfsTer12
ENST00000697307.1:c.14_23del	ENSP00000513242.1:p.Leu5ArgfsTer12
ENST00000697308.1:c.14_23del	ENSP00000513243.1:p.Leu5ArgfsTer12
ENST00000697309.1:c.14_23del	ENSP00000513244.1:p.Leu5ArgfsTer12
ENST00000697310.1:c.14_23del	ENSP00000513245.1:p.Leu5ArgfsTer12
ENST00000697311.1:c.14_23del	ENSP00000513246.1:p.Leu5ArgfsTer12
ENST00000697312.1:c.14_23del	ENSP00000513247.1:p.Leu5ArgfsTer12
ENST00000697313.1:n.126_135del
ENST00000697314.1:n.126_135del
ENST00000697315.1:c.14_23del	ENSP00000513248.1:p.Leu5ArgfsTer12
ENST00000697316.1:n.135_144del
ENST00000697317.1:n.124_133del
ENST00000697318.1:n.126_135del
ENST00000265433.8:c.14_23del MANE Select	ENSP00000265433.4:p.Leu5ArgfsTer12
ENST00000265433.7:c.14_23del	ENSP00000265433.3:p.Leu5ArgfsTer12
ENST00000396252.6:c.14_23del	ENSP00000379551.2:p.Leu5ArgfsTer12
ENST00000494804.1:n.118_127del
ENST00000519426.5:c.14_23del	ENSP00000430983.1:p.Leu5ArgfsTer12
ENST00000523444.1:c.14_23del	ENSP00000428252.1:p.Leu5ArgfsTer12
NM_001024688.2:c.-283_-274del	NP_001019859.1:n.-283_-274del
NM_002485.4:c.14_23del , LRG_158t1:c.14_23del	NP_002476.2:p.Leu5ArgfsTer12
XM_011517046.1:c.14_23del	XP_011515348.1:p.Leu5ArgfsTer12
XR_928335.1:n.151_160del
XM_017013460.1:c.-1006_-997del	XP_016868949.1:n.-1006_-997del
XM_017013462.2:c.-812_-803del	XP_016868951.1:n.-812_-803del
XM_024447165.1:c.-956_-947del	XP_024302933.1:n.-956_-947del
NM_002485.5:c.14_23del MANE Select	NP_002476.2:p.Leu5ArgfsTer12
NM_001024688.3:c.-283_-274del	NP_001019859.1:n.-283_-274del