Canonical Allele Identifier: CA16612531
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 411754
dbSNP Id: rs1060503466

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89947883_89947886del , CM000670.2:g.89947883_89947886del GRCh38
NC_000008.10:g.90960111_90960114del , CM000670.1:g.90960111_90960114del GRCh37
NC_000008.9:g.91029287_91029290del NCBI36
NG_008860.1:g.41788_41791del , LRG_158:g.41788_41791del

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3156_3159del
ENST00000517337.2:c.1608_1611del ENSP00000429971.2:p.Asn536LysfsTer?
ENST00000523444.2:c.1608_1611del ENSP00000428252.2:p.Asn536LysfsTer?
ENST00000697292.1:c.1854_1857del ENSP00000513229.1:p.Asn618LysfsTer?
ENST00000697293.1:c.1854_1857del ENSP00000513230.1:p.Asn618LysfsTer?
ENST00000697294.1:c.*1465_*1468del ENSP00000513231.1:n.*1465_*1468del
ENST00000697295.1:c.*1163_*1166del ENSP00000513232.1:n.*1163_*1166del
ENST00000697296.1:c.*1522_*1525del ENSP00000513233.1:n.*1522_*1525del
ENST00000697297.1:n.3639_3642del
ENST00000697298.1:c.1608_1611del ENSP00000513234.1:p.Asn536LysfsTer?
ENST00000697299.1:c.1608_1611del ENSP00000513235.1:p.Asn536LysfsTer?
ENST00000697300.1:c.*1458_*1461del ENSP00000513236.1:n.*1458_*1461del
ENST00000697301.1:c.*1375_*1378del ENSP00000513237.1:n.*1375_*1378del
ENST00000697302.1:c.*1375_*1378del ENSP00000513238.1:n.*1375_*1378del
ENST00000697303.1:c.*1458_*1461del ENSP00000513239.1:n.*1458_*1461del
ENST00000697304.1:c.1542_1545del ENSP00000513240.1:p.Asn514LysfsTer?
ENST00000697306.1:c.*877_*880del ENSP00000513241.1:n.*877_*880del
ENST00000697307.1:c.1846-4518_1846-4515del ENSP00000513242.1:n.1846-4518_1846-4515de...
ENST00000697308.1:c.1846-1589_1846-1586del ENSP00000513243.1:n.1846-1589_1846-1586de...
ENST00000697309.1:c.1854_1857del ENSP00000513244.1:p.Asn618LysfsTer?
ENST00000697310.1:c.1854_1857del ENSP00000513245.1:p.Asn618LysfsTer?
ENST00000697311.1:c.1854_1857del ENSP00000513246.1:p.Asn618LysfsTer?
ENST00000697312.1:c.*1252_*1255del ENSP00000513247.1:n.*1252_*1255del
ENST00000697313.1:n.2688-12272_2688-12269del
ENST00000697314.1:n.3636+5360_3636+5363del
ENST00000697315.1:c.1854_1857del ENSP00000513248.1:p.Asn618LysfsTer?
ENST00000697316.1:n.1975_1978del
ENST00000697317.1:n.1964_1967del
ENST00000265433.8:c.1854_1857del MANE Select ENSP00000265433.4:p.Asn618LysfsTer?
ENST00000265433.7:c.1854_1857del ENSP00000265433.3:p.Asn618LysfsTer?
ENST00000396252.6:c.*1727_*1730del ENSP00000379551.2:n.*1727_*1730del
ENST00000409330.5:c.1608_1611del ENSP00000386924.1:p.Asn536LysfsTer?
ENST00000613033.1:c.120_123del ENSP00000484487.1:p.Asn40LysfsTer?
NM_001024688.2:c.1608_1611del NP_001019859.1:p.Asn536LysfsTer?
NM_002485.4:c.1854_1857del , LRG_158t1:c.1854_1857del NP_002476.2:p.Asn618LysfsTer?
XM_011517044.1:c.1830_1833del XP_011515346.1:p.Asn610LysfsTer?
XM_011517045.1:c.1608_1611del XP_011515347.1:p.Asn536LysfsTer?
XR_928335.1:n.1993_1996del
XM_017013460.1:c.975_978del XP_016868949.1:p.Asn325LysfsTer?
XM_017013462.2:c.975_978del XP_016868951.1:p.Asn325LysfsTer?
XM_024447163.1:c.1608_1611del XP_024302931.1:p.Asn536LysfsTer?
XM_024447164.1:c.1608_1611del XP_024302932.1:p.Asn536LysfsTer?
XM_024447165.1:c.975_978del XP_024302933.1:p.Asn325LysfsTer?
NM_002485.5:c.1854_1857del MANE Select NP_002476.2:p.Asn618LysfsTer?
NM_001024688.3:c.1608_1611del NP_001019859.1:p.Asn536LysfsTer?