Canonical Allele Identifier: CA1801469889
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982724G= , CM000670.2:g.89982724G= GRCh38
NC_000008.10:g.90994952G= , CM000670.1:g.90994952G= GRCh37
NC_000008.9:g.91064128G= NCBI36
NG_008860.1:g.6948C= , LRG_158:g.6948C=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.273C=
ENST00000517337.2:c.-128C= ENSP00000429971.2:n.-128C=
ENST00000523444.2:c.-128C= ENSP00000428252.2:n.-128C=
ENST00000697292.1:c.169C= ENSP00000513229.1:p.Leu57=
ENST00000697293.1:c.169C= ENSP00000513230.1:p.Leu57=
ENST00000697294.1:c.169C= ENSP00000513231.1:p.Leu57=
ENST00000697295.1:c.37+1801C= ENSP00000513232.1:n.37+1801C=
ENST00000697296.1:c.169C= ENSP00000513233.1:p.Leu57=
ENST00000697297.1:n.275C=
ENST00000697298.1:c.-128C= ENSP00000513234.1:n.-128C=
ENST00000697299.1:c.-75-1201C= ENSP00000513235.1:n.-75-1201C=
ENST00000697300.1:c.-128C= ENSP00000513236.1:n.-128C=
ENST00000697301.1:c.-128C= ENSP00000513237.1:n.-128C=
ENST00000697302.1:c.169C= ENSP00000513238.1:p.Leu57=
ENST00000697303.1:c.169C= ENSP00000513239.1:p.Leu57=
ENST00000697304.1:c.169C= ENSP00000513240.1:p.Leu57=
ENST00000697306.1:c.169C= ENSP00000513241.1:p.Leu57=
ENST00000697307.1:c.169C= ENSP00000513242.1:p.Leu57=
ENST00000697308.1:c.169C= ENSP00000513243.1:p.Leu57=
ENST00000697309.1:c.169C= ENSP00000513244.1:p.Leu57=
ENST00000697310.1:c.169C= ENSP00000513245.1:p.Leu57=
ENST00000697311.1:c.169C= ENSP00000513246.1:p.Leu57=
ENST00000697312.1:c.169C= ENSP00000513247.1:p.Leu57=
ENST00000697313.1:n.281C=
ENST00000697314.1:n.281C=
ENST00000697315.1:c.169C= ENSP00000513248.1:p.Leu57=
ENST00000697316.1:n.290C=
ENST00000697317.1:n.279C=
ENST00000697318.1:n.281C=
ENST00000265433.8:c.169C= MANE Select ENSP00000265433.4:p.Leu57=
ENST00000265433.7:c.169C= ENSP00000265433.3:p.Leu57=
ENST00000396252.6:c.169C= ENSP00000379551.2:p.Leu57=
ENST00000409330.5:c.-78C= ENSP00000386924.1:n.-78C=
ENST00000494804.1:n.273C=
ENST00000517337.1:c.-128C= ENSP00000429971.1:n.-128C=
ENST00000519426.5:c.169C= ENSP00000430983.1:p.Leu57=
ENST00000523444.1:c.169C= ENSP00000428252.1:p.Leu57=
NM_001024688.2:c.-128C= NP_001019859.1:n.-128C=
NM_002485.4:c.169C= , LRG_158t1:c.169C= NP_002476.2:p.Leu57=
XM_011517044.1:c.145C= XP_011515346.1:p.Leu49=
XM_011517045.1:c.-128C= XP_011515347.1:n.-128C=
XM_011517046.1:c.169C= XP_011515348.1:p.Leu57=
XR_928335.1:n.306C=
XM_017013460.1:c.-851C= XP_016868949.1:n.-851C=
XM_017013462.2:c.-657C= XP_016868951.1:n.-657C=
XM_024447163.1:c.-78C= XP_024302931.1:n.-78C=
XM_024447165.1:c.-801C= XP_024302933.1:n.-801C=
NM_002485.5:c.169C= MANE Select NP_002476.2:p.Leu57=
NM_001024688.3:c.-128C= NP_001019859.1:n.-128C=