Canonical Allele Identifier: CA1801415425
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937069T= , CM000670.2:g.89937069T= GRCh38
NC_000008.10:g.90949297T= , CM000670.1:g.90949297T= GRCh37
NC_000008.9:g.91018473T= NCBI36
NG_008860.1:g.52603A= , LRG_158:g.52603A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3611A=
ENST00000494804.2:n.3493A=
ENST00000517337.2:c.1945A= ENSP00000429971.2:p.Asn649=
ENST00000523444.2:c.1945A= ENSP00000428252.2:p.Asn649=
ENST00000697292.1:c.2191A= ENSP00000513229.1:p.Asn731=
ENST00000697293.1:c.2242A= ENSP00000513230.1:p.Asn748=
ENST00000697294.1:c.*1802A= ENSP00000513231.1:n.*1802A=
ENST00000697295.1:c.*1500A= ENSP00000513232.1:n.*1500A=
ENST00000697296.1:c.*1859A= ENSP00000513233.1:n.*1859A=
ENST00000697297.1:n.3976A=
ENST00000697298.1:c.1945A= ENSP00000513234.1:p.Asn649=
ENST00000697299.1:c.1945A= ENSP00000513235.1:p.Asn649=
ENST00000697300.1:c.*1795A= ENSP00000513236.1:n.*1795A=
ENST00000697301.1:c.*1712A= ENSP00000513237.1:n.*1712A=
ENST00000697302.1:c.*1712A= ENSP00000513238.1:n.*1712A=
ENST00000697303.1:c.*1795A= ENSP00000513239.1:n.*1795A=
ENST00000697304.1:c.1879A= ENSP00000513240.1:p.Asn627=
ENST00000697305.1:n.2458A=
ENST00000697306.1:c.*2742A= ENSP00000513241.1:n.*2742A=
ENST00000697307.1:c.1966A= ENSP00000513242.1:p.Asn656=
ENST00000697308.1:c.2122A= ENSP00000513243.1:p.Asn708=
ENST00000697309.1:c.2185-1457A= ENSP00000513244.1:n.2185-1457A=
ENST00000697310.1:c.2191A= ENSP00000513245.1:p.Asn731=
ENST00000697311.1:c.*456A= ENSP00000513246.1:n.*456A=
ENST00000697312.1:c.*1644A= ENSP00000513247.1:n.*1644A=
ENST00000697313.1:n.2688-1457A=
ENST00000697314.1:n.3637-1457A=
ENST00000697315.1:c.*95A= ENSP00000513248.1:n.*95A=
ENST00000697316.1:n.2312A=
ENST00000265433.8:c.2191A= MANE Select ENSP00000265433.4:p.Asn731=
ENST00000265433.7:c.2191A= ENSP00000265433.3:p.Asn731=
ENST00000396252.6:c.*2064A= ENSP00000379551.2:n.*2064A=
ENST00000409330.5:c.1945A= ENSP00000386924.1:p.Asn649=
ENST00000474821.1:n.279A=
ENST00000613033.1:c.301A= ENSP00000484487.1:p.Asn101=
NM_001024688.2:c.1945A= NP_001019859.1:p.Asn649=
NM_002485.4:c.2191A= , LRG_158t1:c.2191A= NP_002476.2:p.Asn731=
XM_011517044.1:c.2167A= XP_011515346.1:p.Asn723=
XM_011517045.1:c.1945A= XP_011515347.1:p.Asn649=
XM_017013460.1:c.1312A= XP_016868949.1:p.Asn438=
XM_017013462.2:c.1312A= XP_016868951.1:p.Asn438=
XM_024447163.1:c.1945A= XP_024302931.1:p.Asn649=
XM_024447164.1:c.1945A= XP_024302932.1:p.Asn649=
XM_024447165.1:c.1312A= XP_024302933.1:p.Asn438=
NM_002485.5:c.2191A= MANE Select NP_002476.2:p.Asn731=
NM_001024688.3:c.1945A= NP_001019859.1:p.Asn649=