Canonical Allele Identifier: CA1801469987
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982765C= , CM000670.2:g.89982765C= GRCh38
NC_000008.10:g.90994993C= , CM000670.1:g.90994993C= GRCh37
NC_000008.9:g.91064169C= NCBI36
NG_008860.1:g.6907G= , LRG_158:g.6907G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.232G=
ENST00000517337.2:c.-169G= ENSP00000429971.2:n.-169G=
ENST00000523444.2:c.-169G= ENSP00000428252.2:n.-169G=
ENST00000697292.1:c.128G= ENSP00000513229.1:p.Arg43=
ENST00000697293.1:c.128G= ENSP00000513230.1:p.Arg43=
ENST00000697294.1:c.128G= ENSP00000513231.1:p.Arg43=
ENST00000697295.1:c.37+1760G= ENSP00000513232.1:n.37+1760G=
ENST00000697296.1:c.128G= ENSP00000513233.1:p.Arg43=
ENST00000697297.1:n.234G=
ENST00000697298.1:c.-169G= ENSP00000513234.1:n.-169G=
ENST00000697299.1:c.-75-1242G= ENSP00000513235.1:n.-75-1242G=
ENST00000697300.1:c.-169G= ENSP00000513236.1:n.-169G=
ENST00000697301.1:c.-169G= ENSP00000513237.1:n.-169G=
ENST00000697302.1:c.128G= ENSP00000513238.1:p.Arg43=
ENST00000697303.1:c.128G= ENSP00000513239.1:p.Arg43=
ENST00000697304.1:c.128G= ENSP00000513240.1:p.Arg43=
ENST00000697306.1:c.128G= ENSP00000513241.1:p.Arg43=
ENST00000697307.1:c.128G= ENSP00000513242.1:p.Arg43=
ENST00000697308.1:c.128G= ENSP00000513243.1:p.Arg43=
ENST00000697309.1:c.128G= ENSP00000513244.1:p.Arg43=
ENST00000697310.1:c.128G= ENSP00000513245.1:p.Arg43=
ENST00000697311.1:c.128G= ENSP00000513246.1:p.Arg43=
ENST00000697312.1:c.128G= ENSP00000513247.1:p.Arg43=
ENST00000697313.1:n.240G=
ENST00000697314.1:n.240G=
ENST00000697315.1:c.128G= ENSP00000513248.1:p.Arg43=
ENST00000697316.1:n.249G=
ENST00000697317.1:n.238G=
ENST00000697318.1:n.240G=
ENST00000265433.8:c.128G= MANE Select ENSP00000265433.4:p.Arg43=
ENST00000265433.7:c.128G= ENSP00000265433.3:p.Arg43=
ENST00000396252.6:c.128G= ENSP00000379551.2:p.Arg43=
ENST00000409330.5:c.-119G= ENSP00000386924.1:n.-119G=
ENST00000494804.1:n.232G=
ENST00000517337.1:c.-169G= ENSP00000429971.1:n.-169G=
ENST00000519426.5:c.128G= ENSP00000430983.1:p.Arg43=
ENST00000523444.1:c.128G= ENSP00000428252.1:p.Arg43=
NM_001024688.2:c.-169G= NP_001019859.1:n.-169G=
NM_002485.4:c.128G= , LRG_158t1:c.128G= NP_002476.2:p.Arg43=
XM_011517044.1:c.104G= XP_011515346.1:p.Arg35=
XM_011517045.1:c.-169G= XP_011515347.1:n.-169G=
XM_011517046.1:c.128G= XP_011515348.1:p.Arg43=
XR_928335.1:n.265G=
XM_017013460.1:c.-892G= XP_016868949.1:n.-892G=
XM_017013462.2:c.-698G= XP_016868951.1:n.-698G=
XM_024447163.1:c.-119G= XP_024302931.1:n.-119G=
XM_024447165.1:c.-842G= XP_024302933.1:n.-842G=
NM_002485.5:c.128G= MANE Select NP_002476.2:p.Arg43=
NM_001024688.3:c.-169G= NP_001019859.1:n.-169G=