Canonical Allele Identifier: CA1801419376
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89945949A= , CM000670.2:g.89945949A= GRCh38
NC_000008.10:g.90958177A= , CM000670.1:g.90958177A= GRCh37
NC_000008.9:g.91027353A= NCBI36
NG_008860.1:g.43723T= , LRG_158:g.43723T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.3372+191T=
ENST00000517337.2:c.1824+191T= ENSP00000429971.2:n.1824+191T=
ENST00000523444.2:c.1824+191T= ENSP00000428252.2:n.1824+191T=
ENST00000697292.1:c.2070+191T= ENSP00000513229.1:n.2070+191T=
ENST00000697293.1:c.2070+191T= ENSP00000513230.1:n.2070+191T=
ENST00000697294.1:c.*1681+191T= ENSP00000513231.1:n.*1681+191T=
ENST00000697295.1:c.*1379+191T= ENSP00000513232.1:n.*1379+191T=
ENST00000697296.1:c.*1738+191T= ENSP00000513233.1:n.*1738+191T=
ENST00000697297.1:n.3855+191T=
ENST00000697298.1:c.1824+191T= ENSP00000513234.1:n.1824+191T=
ENST00000697299.1:c.1824+191T= ENSP00000513235.1:n.1824+191T=
ENST00000697300.1:c.*1674+191T= ENSP00000513236.1:n.*1674+191T=
ENST00000697301.1:c.*1591+191T= ENSP00000513237.1:n.*1591+191T=
ENST00000697302.1:c.*1591+191T= ENSP00000513238.1:n.*1591+191T=
ENST00000697303.1:c.*1674+191T= ENSP00000513239.1:n.*1674+191T=
ENST00000697304.1:c.1758+191T= ENSP00000513240.1:n.1758+191T=
ENST00000697306.1:c.*2621+191T= ENSP00000513241.1:n.*2621+191T=
ENST00000697307.1:c.1846-2583T= ENSP00000513242.1:n.1846-2583T=
ENST00000697308.1:c.2001+191T= ENSP00000513243.1:n.2001+191T=
ENST00000697309.1:c.2070+191T= ENSP00000513244.1:n.2070+191T=
ENST00000697310.1:c.2070+191T= ENSP00000513245.1:n.2070+191T=
ENST00000697311.1:c.2070+191T= ENSP00000513246.1:n.2070+191T=
ENST00000697312.1:c.*1468+191T= ENSP00000513247.1:n.*1468+191T=
ENST00000697313.1:n.2688-10337T=
ENST00000697314.1:n.3636+7295T=
ENST00000697315.1:c.2070+191T= ENSP00000513248.1:n.2070+191T=
ENST00000697316.1:n.2191+191T=
ENST00000265433.8:c.2070+191T= MANE Select ENSP00000265433.4:n.2070+191T=
ENST00000265433.7:c.2070+191T= ENSP00000265433.3:n.2070+191T=
ENST00000396252.6:c.*1943+191T= ENSP00000379551.2:n.*1943+191T=
ENST00000409330.5:c.1824+191T= ENSP00000386924.1:n.1824+191T=
ENST00000520325.1:n.486+191T=
ENST00000613033.1:c.180+1875T= ENSP00000484487.1:n.180+1875T=
NM_001024688.2:c.1824+191T= NP_001019859.1:n.1824+191T=
NM_002485.4:c.2070+191T= , LRG_158t1:c.2070+191T= NP_002476.2:n.2070+191T=
XM_011517044.1:c.2046+191T= XP_011515346.1:n.2046+191T=
XM_011517045.1:c.1824+191T= XP_011515347.1:n.1824+191T=
XM_017013460.1:c.1191+191T= XP_016868949.1:n.1191+191T=
XM_017013462.2:c.1191+191T= XP_016868951.1:n.1191+191T=
XM_024447163.1:c.1824+191T= XP_024302931.1:n.1824+191T=
XM_024447164.1:c.1824+191T= XP_024302932.1:n.1824+191T=
XM_024447165.1:c.1191+191T= XP_024302933.1:n.1191+191T=
NM_002485.5:c.2070+191T= MANE Select NP_002476.2:n.2070+191T=
NM_001024688.3:c.1824+191T= NP_001019859.1:n.1824+191T=