Canonical Allele Identifier: CA913187620

Gene: NBN

Linked Data

• ClinVar Variation Id: 631145
• ClinVar RCV Id: RCV002535601
• dbSNP Id: rs1563578727

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980767del , CM000670.2:g.89980767del	GRCh38
NC_000008.10:g.90992995del , CM000670.1:g.90992995del	GRCh37
NC_000008.9:g.91062171del	NCBI36
NG_008860.1:g.8906del , LRG_158:g.8906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1750del
ENST00000517337.2:c.202del	ENSP00000429971.2:p.Val69SerfsTer5
ENST00000523444.2:c.202del	ENSP00000428252.2:p.Val69SerfsTer5
ENST00000697292.1:c.448del	ENSP00000513229.1:p.Val151SerfsTer5
ENST00000697293.1:c.448del	ENSP00000513230.1:p.Val151SerfsTer5
ENST00000697294.1:c.407del	ENSP00000513231.1:p.Pro136LeufsTer13
ENST00000697295.1:c.37+3759del	ENSP00000513232.1:n.37+3759del
ENST00000697296.1:c.*116del	ENSP00000513233.1:n.*116del
ENST00000697297.1:n.2233del
ENST00000697298.1:c.202del	ENSP00000513234.1:p.Val69SerfsTer5
ENST00000697299.1:c.202del	ENSP00000513235.1:p.Val69SerfsTer5
ENST00000697300.1:c.202del	ENSP00000513236.1:p.Val69SerfsTer5
ENST00000697301.1:c.161del	ENSP00000513237.1:p.Pro54LeufsTer?
ENST00000697302.1:c.407del	ENSP00000513238.1:p.Pro136LeufsTer?
ENST00000697303.1:c.448del	ENSP00000513239.1:p.Val151SerfsTer5
ENST00000697304.1:c.448del	ENSP00000513240.1:p.Val151SerfsTer5
ENST00000697306.1:c.448del	ENSP00000513241.1:p.Val151SerfsTer5
ENST00000697307.1:c.448del	ENSP00000513242.1:p.Val151SerfsTer5
ENST00000697308.1:c.448del	ENSP00000513243.1:p.Val151SerfsTer5
ENST00000697309.1:c.448del	ENSP00000513244.1:p.Val151SerfsTer5
ENST00000697310.1:c.448del	ENSP00000513245.1:p.Val151SerfsTer5
ENST00000697311.1:c.448del	ENSP00000513246.1:p.Val151SerfsTer5
ENST00000697312.1:c.448del	ENSP00000513247.1:p.Val151SerfsTer5
ENST00000697313.1:n.2239del
ENST00000697314.1:n.2239del
ENST00000697315.1:c.448del	ENSP00000513248.1:p.Val151SerfsTer5
ENST00000697316.1:n.569del
ENST00000697317.1:n.558del
ENST00000697318.1:n.560del
ENST00000265433.8:c.448del MANE Select	ENSP00000265433.4:p.Val151SerfsTer5
ENST00000265433.7:c.448del	ENSP00000265433.3:p.Val151SerfsTer5
ENST00000396252.6:c.*321del	ENSP00000379551.2:n.*321del
ENST00000409330.5:c.202del	ENSP00000386924.1:p.Val69SerfsTer5
ENST00000517337.1:c.202del	ENSP00000429971.1:p.Val69SerfsTer5
ENST00000517772.5:c.202del	ENSP00000428717.1:p.Val69SerfsTer5
ENST00000519426.5:c.320+609del	ENSP00000430983.1:n.320+609del
ENST00000523444.1:c.*280del	ENSP00000428252.1:n.*280del
NM_001024688.2:c.202del	NP_001019859.1:p.Val69SerfsTer5
NM_002485.4:c.448del , LRG_158t1:c.448del	NP_002476.2:p.Val151SerfsTer5
XM_011517044.1:c.424del	XP_011515346.1:p.Val143SerfsTer5
XM_011517045.1:c.202del	XP_011515347.1:p.Val69SerfsTer5
XM_011517046.1:c.448del	XP_011515348.1:p.Val151SerfsTer5
XR_928335.1:n.585del
XM_017013460.1:c.-522del	XP_016868949.1:n.-522del
XM_017013462.2:c.-328del	XP_016868951.1:n.-328del
XM_024447163.1:c.202del	XP_024302931.1:p.Val69SerfsTer5
XM_024447164.1:c.202del	XP_024302932.1:p.Val69SerfsTer5
XM_024447165.1:c.-522del	XP_024302933.1:n.-522del
NM_002485.5:c.448del MANE Select	NP_002476.2:p.Val151SerfsTer5
NM_001024688.3:c.202del	NP_001019859.1:p.Val69SerfsTer5