Canonical Allele Identifier: CA1801469916
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982738_89982740delinsAAG , CM000670.2:g.89982738_89982740delinsAAG GRCh38
NC_000008.10:g.90994966_90994968delinsAAG , CM000670.1:g.90994966_90994968delinsAAG GRCh37
NC_000008.9:g.91064142_91064144delinsAAG NCBI36
NG_008860.1:g.6932_6934delinsCTT , LRG_158:g.6932_6934delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.257_259delinsCTT
ENST00000517337.2:c.-144_-142delinsCTT ENSP00000429971.2:n.-144_-142delinsCTT
ENST00000523444.2:c.-144_-142delinsCTT ENSP00000428252.2:n.-144_-142delinsCTT
ENST00000697292.1:c.153_155delinsCTT ENSP00000513229.1:p.Asn51=
ENST00000697293.1:c.153_155delinsCTT ENSP00000513230.1:p.Asn51=
ENST00000697294.1:c.153_155delinsCTT ENSP00000513231.1:p.Asn51=
ENST00000697295.1:c.37+1785_37+1787delinsCTT ENSP00000513232.1:n.37+1785_37+1787delinsCTT
ENST00000697296.1:c.153_155delinsCTT ENSP00000513233.1:p.Asn51=
ENST00000697297.1:n.259_261delinsCTT
ENST00000697298.1:c.-144_-142delinsCTT ENSP00000513234.1:n.-144_-142delinsCTT
ENST00000697299.1:c.-75-1217_-75-1215delinsCTT ENSP00000513235.1:n.-75-1217_-75-1215delinsCTT
ENST00000697300.1:c.-144_-142delinsCTT ENSP00000513236.1:n.-144_-142delinsCTT
ENST00000697301.1:c.-144_-142delinsCTT ENSP00000513237.1:n.-144_-142delinsCTT
ENST00000697302.1:c.153_155delinsCTT ENSP00000513238.1:p.Asn51=
ENST00000697303.1:c.153_155delinsCTT ENSP00000513239.1:p.Asn51=
ENST00000697304.1:c.153_155delinsCTT ENSP00000513240.1:p.Asn51=
ENST00000697306.1:c.153_155delinsCTT ENSP00000513241.1:p.Asn51=
ENST00000697307.1:c.153_155delinsCTT ENSP00000513242.1:p.Asn51=
ENST00000697308.1:c.153_155delinsCTT ENSP00000513243.1:p.Asn51=
ENST00000697309.1:c.153_155delinsCTT ENSP00000513244.1:p.Asn51=
ENST00000697310.1:c.153_155delinsCTT ENSP00000513245.1:p.Asn51=
ENST00000697311.1:c.153_155delinsCTT ENSP00000513246.1:p.Asn51=
ENST00000697312.1:c.153_155delinsCTT ENSP00000513247.1:p.Asn51=
ENST00000697313.1:n.265_267delinsCTT
ENST00000697314.1:n.265_267delinsCTT
ENST00000697315.1:c.153_155delinsCTT ENSP00000513248.1:p.Asn51=
ENST00000697316.1:n.274_276delinsCTT
ENST00000697317.1:n.263_265delinsCTT
ENST00000697318.1:n.265_267delinsCTT
ENST00000265433.8:c.153_155delinsCTT MANE Select ENSP00000265433.4:p.Asn51=
ENST00000265433.7:c.153_155delinsCTT ENSP00000265433.3:p.Asn51=
ENST00000396252.6:c.153_155delinsCTT ENSP00000379551.2:p.Asn51=
ENST00000409330.5:c.-94_-92delinsCTT ENSP00000386924.1:n.-94_-92delinsCTT
ENST00000494804.1:n.257_259delinsCTT
ENST00000517337.1:c.-144_-142delinsCTT ENSP00000429971.1:n.-144_-142delinsCTT
ENST00000519426.5:c.153_155delinsCTT ENSP00000430983.1:p.Asn51=
ENST00000523444.1:c.153_155delinsCTT ENSP00000428252.1:p.Asn51=
NM_001024688.2:c.-144_-142delinsCTT NP_001019859.1:n.-144_-142delinsCTT
NM_002485.4:c.153_155delinsCTT , LRG_158t1:c.153_155delinsCTT NP_002476.2:p.Asn51=
XM_011517044.1:c.129_131delinsCTT XP_011515346.1:p.Asn43=
XM_011517045.1:c.-144_-142delinsCTT XP_011515347.1:n.-144_-142delinsCTT
XM_011517046.1:c.153_155delinsCTT XP_011515348.1:p.Asn51=
XR_928335.1:n.290_292delinsCTT
XM_017013460.1:c.-867_-865delinsCTT XP_016868949.1:n.-867_-865delinsCTT
XM_017013462.2:c.-673_-671delinsCTT XP_016868951.1:n.-673_-671delinsCTT
XM_024447163.1:c.-94_-92delinsCTT XP_024302931.1:n.-94_-92delinsCTT
XM_024447165.1:c.-817_-815delinsCTT XP_024302933.1:n.-817_-815delinsCTT
NM_002485.5:c.153_155delinsCTT MANE Select NP_002476.2:p.Asn51=
NM_001024688.3:c.-144_-142delinsCTT NP_001019859.1:n.-144_-142delinsCTT