Canonical Allele Identifier: CA2573143423

Gene: NBN

Linked Data

• ClinVar Variation Id: 1421344
• ClinVar RCV Id: RCV001923743
• dbSNP Id: rs2129827880

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970409_89970412del , CM000670.2:g.89970409_89970412del	GRCh38
NC_000008.10:g.90982637_90982640del , CM000670.1:g.90982637_90982640del	GRCh37
NC_000008.9:g.91051813_91051816del	NCBI36
NG_008860.1:g.19263_19266del , LRG_158:g.19263_19266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2153_2156del
ENST00000517337.2:c.605_608del	ENSP00000429971.2:p.Asp202ValfsTer9
ENST00000523444.2:c.605_608del	ENSP00000428252.2:p.Asp202ValfsTer9
ENST00000697292.1:c.851_854del	ENSP00000513229.1:p.Asp284ValfsTer9
ENST00000697293.1:c.851_854del	ENSP00000513230.1:p.Asp284ValfsTer9
ENST00000697294.1:c.*462_*465del	ENSP00000513231.1:n.*462_*465del
ENST00000697295.1:c.*160_*163del	ENSP00000513232.1:n.*160_*163del
ENST00000697296.1:c.*519_*522del	ENSP00000513233.1:n.*519_*522del
ENST00000697297.1:n.2636_2639del
ENST00000697298.1:c.605_608del	ENSP00000513234.1:p.Asp202ValfsTer9
ENST00000697299.1:c.605_608del	ENSP00000513235.1:p.Asp202ValfsTer9
ENST00000697300.1:c.*455_*458del	ENSP00000513236.1:n.*455_*458del
ENST00000697301.1:c.*372_*375del	ENSP00000513237.1:n.*372_*375del
ENST00000697302.1:c.*372_*375del	ENSP00000513238.1:n.*372_*375del
ENST00000697303.1:c.*455_*458del	ENSP00000513239.1:n.*455_*458del
ENST00000697304.1:c.585-5902_585-5899del	ENSP00000513240.1:n.585-5902_585-5899del
ENST00000697306.1:c.480+10325_480+10328del	ENSP00000513241.1:n.480+10325_480+10328del
ENST00000697307.1:c.851_854del	ENSP00000513242.1:p.Asp284ValfsTer9
ENST00000697308.1:c.851_854del	ENSP00000513243.1:p.Asp284ValfsTer9
ENST00000697309.1:c.851_854del	ENSP00000513244.1:p.Asp284ValfsTer9
ENST00000697310.1:c.851_854del	ENSP00000513245.1:p.Asp284ValfsTer9
ENST00000697311.1:c.851_854del	ENSP00000513246.1:p.Asp284ValfsTer9
ENST00000697312.1:c.*249_*252del	ENSP00000513247.1:n.*249_*252del
ENST00000697313.1:n.2642_2645del
ENST00000697314.1:n.2642_2645del
ENST00000697315.1:c.851_854del	ENSP00000513248.1:p.Asp284ValfsTer9
ENST00000697316.1:n.972_975del
ENST00000697317.1:n.961_964del
ENST00000697318.1:n.963_966del
ENST00000265433.8:c.851_854del MANE Select	ENSP00000265433.4:p.Asp284ValfsTer9
ENST00000265433.7:c.851_854del	ENSP00000265433.3:p.Asp284ValfsTer9
ENST00000396252.6:c.*724_*727del	ENSP00000379551.2:n.*724_*727del
ENST00000409330.5:c.605_608del	ENSP00000386924.1:p.Asp202ValfsTer9
NM_001024688.2:c.605_608del	NP_001019859.1:p.Asp202ValfsTer9
NM_002485.4:c.851_854del , LRG_158t1:c.851_854del	NP_002476.2:p.Asp284ValfsTer9
XM_011517044.1:c.827_830del	XP_011515346.1:p.Asp276ValfsTer9
XM_011517045.1:c.605_608del	XP_011515347.1:p.Asp202ValfsTer9
XM_011517046.1:c.851_854del	XP_011515348.1:p.Asp284ValfsTer9
XR_928335.1:n.988_991del
XM_017013460.1:c.-29_-26del	XP_016868949.1:n.-29_-26del
XM_017013462.2:c.-29_-26del	XP_016868951.1:n.-29_-26del
XM_024447163.1:c.605_608del	XP_024302931.1:p.Asp202ValfsTer9
XM_024447164.1:c.605_608del	XP_024302932.1:p.Asp202ValfsTer9
XM_024447165.1:c.-29_-26del	XP_024302933.1:n.-29_-26del
NM_002485.5:c.851_854del MANE Select	NP_002476.2:p.Asp284ValfsTer9
NM_001024688.3:c.605_608del	NP_001019859.1:p.Asp202ValfsTer9