Canonical Allele Identifier: CA249808
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 141731
dbSNP Id: rs587781969

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955539del , CM000670.2:g.89955539del GRCh38
NC_000008.10:g.90967767del , CM000670.1:g.90967767del GRCh37
NC_000008.9:g.91036943del NCBI36
NG_008860.1:g.34134del , LRG_158:g.34134del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.2444del
ENST00000517337.2:c.896del ENSP00000429971.2:p.Pro299GlnfsTer23
ENST00000523444.2:c.896del ENSP00000428252.2:p.Pro299GlnfsTer23
ENST00000697292.1:c.1142del ENSP00000513229.1:p.Pro381GlnfsTer23
ENST00000697293.1:c.1142del ENSP00000513230.1:p.Pro381GlnfsTer23
ENST00000697294.1:c.*753del ENSP00000513231.1:n.*753del
ENST00000697295.1:c.*451del ENSP00000513232.1:n.*451del
ENST00000697296.1:c.*810del ENSP00000513233.1:n.*810del
ENST00000697297.1:n.2927del
ENST00000697298.1:c.896del ENSP00000513234.1:p.Pro299GlnfsTer23
ENST00000697299.1:c.896del ENSP00000513235.1:p.Pro299GlnfsTer23
ENST00000697300.1:c.*746del ENSP00000513236.1:n.*746del
ENST00000697301.1:c.*663del ENSP00000513237.1:n.*663del
ENST00000697302.1:c.*663del ENSP00000513238.1:n.*663del
ENST00000697303.1:c.*746del ENSP00000513239.1:n.*746del
ENST00000697304.1:c.830del ENSP00000513240.1:p.Pro277GlnfsTer23
ENST00000697306.1:c.*142del ENSP00000513241.1:n.*142del
ENST00000697307.1:c.1142del ENSP00000513242.1:p.Pro381GlnfsTer23
ENST00000697308.1:c.1142del ENSP00000513243.1:p.Pro381GlnfsTer23
ENST00000697309.1:c.1142del ENSP00000513244.1:p.Pro381GlnfsTer23
ENST00000697310.1:c.1142del ENSP00000513245.1:p.Pro381GlnfsTer23
ENST00000697311.1:c.1142del ENSP00000513246.1:p.Pro381GlnfsTer23
ENST00000697312.1:c.*540del ENSP00000513247.1:n.*540del
ENST00000697313.1:n.2687+14826del
ENST00000697314.1:n.2933del
ENST00000697315.1:c.1142del ENSP00000513248.1:p.Pro381GlnfsTer23
ENST00000697316.1:n.1263del
ENST00000697317.1:n.1252del
ENST00000697318.1:n.1254del
ENST00000265433.8:c.1142del MANE Select ENSP00000265433.4:p.Pro381GlnfsTer23
ENST00000265433.7:c.1142del ENSP00000265433.3:p.Pro381GlnfsTer23
ENST00000396252.6:c.*1015del ENSP00000379551.2:n.*1015del
ENST00000409330.5:c.896del ENSP00000386924.1:p.Pro299GlnfsTer23
NM_001024688.2:c.896del NP_001019859.1:p.Pro299GlnfsTer23
NM_002485.4:c.1142del , LRG_158t1:c.1142del NP_002476.2:p.Pro381GlnfsTer23
XM_011517044.1:c.1118del XP_011515346.1:p.Pro373GlnfsTer23
XM_011517045.1:c.896del XP_011515347.1:p.Pro299GlnfsTer23
XM_011517046.1:c.1142del XP_011515348.1:p.Pro381GlnfsTer23
XR_928335.1:n.1279del
XM_017013460.1:c.263del XP_016868949.1:p.Pro88GlnfsTer23
XM_017013462.2:c.263del XP_016868951.1:p.Pro88GlnfsTer23
XM_024447163.1:c.896del XP_024302931.1:p.Pro299GlnfsTer23
XM_024447164.1:c.896del XP_024302932.1:p.Pro299GlnfsTer23
XM_024447165.1:c.263del XP_024302933.1:p.Pro88GlnfsTer23
NM_002485.5:c.1142del MANE Select NP_002476.2:p.Pro381GlnfsTer23
NM_001024688.3:c.896del NP_001019859.1:p.Pro299GlnfsTer23