Canonical Allele Identifier: CA1801419465
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89946137_89946138delinsTA , CM000670.2:g.89946137_89946138delinsTA GRCh38
NC_000008.10:g.90958365_90958366delinsTA , CM000670.1:g.90958365_90958366delinsTA GRCh37
NC_000008.9:g.91027541_91027542delinsTA NCBI36
NG_008860.1:g.43534_43535delinsTA , LRG_158:g.43534_43535delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.3372+2_3372+3delinsTA
ENST00000517337.2:c.1824+2_1824+3delinsTA ENSP00000429971.2:n.1824+2_1824+3delinsTA...
ENST00000523444.2:c.1824+2_1824+3delinsTA ENSP00000428252.2:n.1824+2_1824+3delinsTA...
ENST00000697292.1:c.2070+2_2070+3delinsTA ENSP00000513229.1:n.2070+2_2070+3delinsTA...
ENST00000697293.1:c.2070+2_2070+3delinsTA ENSP00000513230.1:n.2070+2_2070+3delinsTA...
ENST00000697294.1:c.*1681+2_*1681+3delinsTA ENSP00000513231.1:n.*1681+2_*1681+3delins...
ENST00000697295.1:c.*1379+2_*1379+3delinsTA ENSP00000513232.1:n.*1379+2_*1379+3delins...
ENST00000697296.1:c.*1738+2_*1738+3delinsTA ENSP00000513233.1:n.*1738+2_*1738+3delins...
ENST00000697297.1:n.3855+2_3855+3delinsTA
ENST00000697298.1:c.1824+2_1824+3delinsTA ENSP00000513234.1:n.1824+2_1824+3delinsTA...
ENST00000697299.1:c.1824+2_1824+3delinsTA ENSP00000513235.1:n.1824+2_1824+3delinsTA...
ENST00000697300.1:c.*1674+2_*1674+3delinsTA ENSP00000513236.1:n.*1674+2_*1674+3delins...
ENST00000697301.1:c.*1591+2_*1591+3delinsTA ENSP00000513237.1:n.*1591+2_*1591+3delins...
ENST00000697302.1:c.*1591+2_*1591+3delinsTA ENSP00000513238.1:n.*1591+2_*1591+3delins...
ENST00000697303.1:c.*1674+2_*1674+3delinsTA ENSP00000513239.1:n.*1674+2_*1674+3delins...
ENST00000697304.1:c.1758+2_1758+3delinsTA ENSP00000513240.1:n.1758+2_1758+3delinsTA...
ENST00000697306.1:c.*2621+2_*2621+3delinsTA ENSP00000513241.1:n.*2621+2_*2621+3delins...
ENST00000697307.1:c.1846-2772_1846-2771delinsTA ENSP00000513242.1:n.1846-2772_1846-2771de...
ENST00000697308.1:c.2001+2_2001+3delinsTA ENSP00000513243.1:n.2001+2_2001+3delinsTA...
ENST00000697309.1:c.2070+2_2070+3delinsTA ENSP00000513244.1:n.2070+2_2070+3delinsTA...
ENST00000697310.1:c.2070+2_2070+3delinsTA ENSP00000513245.1:n.2070+2_2070+3delinsTA...
ENST00000697311.1:c.2070+2_2070+3delinsTA ENSP00000513246.1:n.2070+2_2070+3delinsTA...
ENST00000697312.1:c.*1468+2_*1468+3delinsTA ENSP00000513247.1:n.*1468+2_*1468+3delins...
ENST00000697313.1:n.2688-10526_2688-10525delinsTA
ENST00000697314.1:n.3636+7106_3636+7107delinsTA
ENST00000697315.1:c.2070+2_2070+3delinsTA ENSP00000513248.1:n.2070+2_2070+3delinsTA...
ENST00000697316.1:n.2191+2_2191+3delinsTA
ENST00000697317.1:n.2163_2164delinsTA
ENST00000265433.8:c.2070+2_2070+3delinsTA MANE Select ENSP00000265433.4:n.2070+2_2070+3delinsTA...
ENST00000265433.7:c.2070+2_2070+3delinsTA ENSP00000265433.3:n.2070+2_2070+3delinsTA...
ENST00000396252.6:c.*1943+2_*1943+3delinsTA ENSP00000379551.2:n.*1943+2_*1943+3delins...
ENST00000409330.5:c.1824+2_1824+3delinsTA ENSP00000386924.1:n.1824+2_1824+3delinsTA...
ENST00000520325.1:n.486+2_486+3delinsTA
ENST00000613033.1:c.180+1686_180+1687delinsTA ENSP00000484487.1:n.180+1686_180+1687deli...
NM_001024688.2:c.1824+2_1824+3delinsTA NP_001019859.1:n.1824+2_1824+3delinsTA
NM_002485.4:c.2070+2_2070+3delinsTA , LRG_158t1:c.2070+2_2070+3delinsTA NP_002476.2:n.2070+2_2070+3delinsTA
XM_011517044.1:c.2046+2_2046+3delinsTA XP_011515346.1:n.2046+2_2046+3delinsTA
XM_011517045.1:c.1824+2_1824+3delinsTA XP_011515347.1:n.1824+2_1824+3delinsTA
XM_017013460.1:c.1191+2_1191+3delinsTA XP_016868949.1:n.1191+2_1191+3delinsTA
XM_017013462.2:c.1191+2_1191+3delinsTA XP_016868951.1:n.1191+2_1191+3delinsTA
XM_024447163.1:c.1824+2_1824+3delinsTA XP_024302931.1:n.1824+2_1824+3delinsTA
XM_024447164.1:c.1824+2_1824+3delinsTA XP_024302932.1:n.1824+2_1824+3delinsTA
XM_024447165.1:c.1191+2_1191+3delinsTA XP_024302933.1:n.1191+2_1191+3delinsTA
NM_002485.5:c.2070+2_2070+3delinsTA MANE Select NP_002476.2:n.2070+2_2070+3delinsTA
NM_001024688.3:c.1824+2_1824+3delinsTA NP_001019859.1:n.1824+2_1824+3delinsTA