Canonical Allele Identifier: CA1801419472
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946144T= , CM000670.2:g.89946144T= GRCh38
NC_000008.10:g.90958372T= , CM000670.1:g.90958372T= GRCh37
NC_000008.9:g.91027548T= NCBI36
NG_008860.1:g.43528A= , LRG_158:g.43528A=

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3368A=
ENST00000517337.2:c.1820A= ENSP00000429971.2:p.Lys607=
ENST00000523444.2:c.1820A= ENSP00000428252.2:p.Lys607=
ENST00000697292.1:c.2066A= ENSP00000513229.1:p.Lys689=
ENST00000697293.1:c.2066A= ENSP00000513230.1:p.Lys689=
ENST00000697294.1:c.*1677A= ENSP00000513231.1:n.*1677A=
ENST00000697295.1:c.*1375A= ENSP00000513232.1:n.*1375A=
ENST00000697296.1:c.*1734A= ENSP00000513233.1:n.*1734A=
ENST00000697297.1:n.3851A=
ENST00000697298.1:c.1820A= ENSP00000513234.1:p.Lys607=
ENST00000697299.1:c.1820A= ENSP00000513235.1:p.Lys607=
ENST00000697300.1:c.*1670A= ENSP00000513236.1:n.*1670A=
ENST00000697301.1:c.*1587A= ENSP00000513237.1:n.*1587A=
ENST00000697302.1:c.*1587A= ENSP00000513238.1:n.*1587A=
ENST00000697303.1:c.*1670A= ENSP00000513239.1:n.*1670A=
ENST00000697304.1:c.1754A= ENSP00000513240.1:p.Lys585=
ENST00000697306.1:c.*2617A= ENSP00000513241.1:n.*2617A=
ENST00000697307.1:c.1846-2778A= ENSP00000513242.1:n.1846-2778A=
ENST00000697308.1:c.1997A= ENSP00000513243.1:p.Lys666=
ENST00000697309.1:c.2066A= ENSP00000513244.1:p.Lys689=
ENST00000697310.1:c.2066A= ENSP00000513245.1:p.Lys689=
ENST00000697311.1:c.2066A= ENSP00000513246.1:p.Lys689=
ENST00000697312.1:c.*1464A= ENSP00000513247.1:n.*1464A=
ENST00000697313.1:n.2688-10532A=
ENST00000697314.1:n.3636+7100A=
ENST00000697315.1:c.2066A= ENSP00000513248.1:p.Lys689=
ENST00000697316.1:n.2187A=
ENST00000697317.1:n.2157A=
ENST00000265433.8:c.2066A= MANE Select ENSP00000265433.4:p.Lys689=
ENST00000265433.7:c.2066A= ENSP00000265433.3:p.Lys689=
ENST00000396252.6:c.*1939A= ENSP00000379551.2:n.*1939A=
ENST00000409330.5:c.1820A= ENSP00000386924.1:p.Lys607=
ENST00000520325.1:n.482A=
ENST00000613033.1:c.180+1680A= ENSP00000484487.1:n.180+1680A=
NM_001024688.2:c.1820A= NP_001019859.1:p.Lys607=
NM_002485.4:c.2066A= , LRG_158t1:c.2066A= NP_002476.2:p.Lys689=
XM_011517044.1:c.2042A= XP_011515346.1:p.Lys681=
XM_011517045.1:c.1820A= XP_011515347.1:p.Lys607=
XM_017013460.1:c.1187A= XP_016868949.1:p.Lys396=
XM_017013462.2:c.1187A= XP_016868951.1:p.Lys396=
XM_024447163.1:c.1820A= XP_024302931.1:p.Lys607=
XM_024447164.1:c.1820A= XP_024302932.1:p.Lys607=
XM_024447165.1:c.1187A= XP_024302933.1:p.Lys396=
NM_002485.5:c.2066A= MANE Select NP_002476.2:p.Lys689=
NM_001024688.3:c.1820A= NP_001019859.1:p.Lys607=