Canonical Allele Identifier: CA371674692

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89935598A>C , CM000670.2:g.89935598A>C GRCh38
NC_000008.10:g.90947826A>C , CM000670.1:g.90947826A>C GRCh37
NC_000008.9:g.91017002A>C NCBI36
NG_008860.1:g.54074T>G , LRG_158:g.54074T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3669T>G (NBN)
ENST00000494804.2:n.3551T>G (NBN)
ENST00000517337.2:c.2003T>G (NBN) ENSP00000429971.2:p.Leu668Ter
ENST00000523444.2:c.2003T>G (NBN) ENSP00000428252.2:p.Leu668Ter
ENST00000697292.1:c.2249T>G (NBN) ENSP00000513229.1:p.Leu750Ter
ENST00000697293.1:c.2300T>G (NBN) ENSP00000513230.1:p.Leu767Ter
ENST00000697294.1:c.*1860T>G (NBN) ENSP00000513231.1:n.*1860T>G
ENST00000697295.1:c.*1558T>G (NBN) ENSP00000513232.1:n.*1558T>G
ENST00000697296.1:c.*1917T>G (NBN) ENSP00000513233.1:n.*1917T>G
ENST00000697297.1:n.4034T>G (NBN)
ENST00000697298.1:c.2003T>G (NBN) ENSP00000513234.1:p.Leu668Ter
ENST00000697299.1:c.2003T>G (NBN) ENSP00000513235.1:p.Leu668Ter
ENST00000697300.1:c.*1853T>G (NBN) ENSP00000513236.1:n.*1853T>G
ENST00000697301.1:c.*1770T>G (NBN) ENSP00000513237.1:n.*1770T>G
ENST00000697302.1:c.*1770T>G (NBN) ENSP00000513238.1:n.*1770T>G
ENST00000697303.1:c.*1853T>G (NBN) ENSP00000513239.1:n.*1853T>G
ENST00000697304.1:c.1937T>G (NBN) ENSP00000513240.1:p.Leu646Ter
ENST00000697305.1:n.2516T>G (NBN)
ENST00000697306.1:c.*2800T>G (NBN) ENSP00000513241.1:n.*2800T>G
ENST00000697307.1:c.2024T>G (NBN) ENSP00000513242.1:p.Leu675Ter
ENST00000697308.1:c.2180T>G (NBN) ENSP00000513243.1:p.Leu727Ter
ENST00000697309.1:c.2199T>G (NBN) ENSP00000513244.1:p.Phe733Leu
ENST00000697310.1:c.2249T>G (NBN) ENSP00000513245.1:p.Leu750Ter
ENST00000697311.1:c.*514T>G (NBN) ENSP00000513246.1:n.*514T>G
ENST00000697312.1:c.*1702T>G (NBN) ENSP00000513247.1:n.*1702T>G
ENST00000697313.1:n.2702T>G (NBN)
ENST00000697314.1:n.3651T>G (NBN)
ENST00000697315.1:c.*153T>G (NBN) ENSP00000513248.1:n.*153T>G
ENST00000265433.8:c.2249T>G (NBN) MANE Select ENSP00000265433.4:p.Leu750Ter
ENST00000265433.7:c.2249T>G (NBN) ENSP00000265433.3:p.Leu750Ter
ENST00000396252.6:c.*2122T>G (NBN) ENSP00000379551.2:n.*2122T>G
ENST00000409330.5:c.2003T>G (NBN) ENSP00000386924.1:p.Leu668Ter
ENST00000474821.1:n.337T>G (NBN)
ENST00000613033.1:c.359T>G (NBN) ENSP00000484487.1:p.Leu120Ter
NM_001024688.2:c.2003T>G (NBN) NP_001019859.1:p.Leu668Ter
NM_002485.4:c.2249T>G , LRG_158t1:c.2249T>G (NBN) NP_002476.2:p.Leu750Ter
XM_011517044.1:c.2225T>G (NBN) XP_011515346.1:p.Leu742Ter
XM_011517045.1:c.2003T>G (NBN) XP_011515347.1:p.Leu668Ter
XM_011517287.3:c.*10066A>C (OSGIN2) XP_011515589.1:n.*10066A>C
XM_011517288.3:c.*10066A>C (OSGIN2) XP_011515590.1:n.*10066A>C
XM_017013460.1:c.1370T>G (NBN) XP_016868949.1:p.Leu457Ter
XM_017013462.2:c.1370T>G (NBN) XP_016868951.1:p.Leu457Ter
XM_024447163.1:c.2003T>G (NBN) XP_024302931.1:p.Leu668Ter
XM_024447164.1:c.2003T>G (NBN) XP_024302932.1:p.Leu668Ter
XM_024447165.1:c.1370T>G (NBN) XP_024302933.1:p.Leu457Ter
NM_002485.5:c.2249T>G (NBN) MANE Select NP_002476.2:p.Leu750Ter
NM_001024688.3:c.2003T>G (NBN) NP_001019859.1:p.Leu668Ter