Canonical Allele Identifier: CA1801470060
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89982803_89982805delinsGTT , CM000670.2:g.89982803_89982805delinsGTT GRCh38
NC_000008.10:g.90995031_90995033delinsGTT , CM000670.1:g.90995031_90995033delinsGTT GRCh37
NC_000008.9:g.91064207_91064209delinsGTT NCBI36
NG_008860.1:g.6867_6869delinsAAC , LRG_158:g.6867_6869delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.192_194delinsAAC
ENST00000517337.2:c.-209_-207delinsAAC ENSP00000429971.2:n.-209_-207delinsAAC
ENST00000523444.2:c.-209_-207delinsAAC ENSP00000428252.2:n.-209_-207delinsAAC
ENST00000697292.1:c.88_90delinsAAC ENSP00000513229.1:p.Asn30=
ENST00000697293.1:c.88_90delinsAAC ENSP00000513230.1:p.Asn30=
ENST00000697294.1:c.88_90delinsAAC ENSP00000513231.1:p.Asn30=
ENST00000697295.1:c.37+1720_37+1722delinsAAC ENSP00000513232.1:n.37+1720_37+1722delinsAAC
ENST00000697296.1:c.88_90delinsAAC ENSP00000513233.1:p.Asn30=
ENST00000697297.1:n.194_196delinsAAC
ENST00000697298.1:c.-209_-207delinsAAC ENSP00000513234.1:n.-209_-207delinsAAC
ENST00000697299.1:c.-75-1282_-75-1280delinsAAC ENSP00000513235.1:n.-75-1282_-75-1280delinsAAC
ENST00000697300.1:c.-209_-207delinsAAC ENSP00000513236.1:n.-209_-207delinsAAC
ENST00000697301.1:c.-209_-207delinsAAC ENSP00000513237.1:n.-209_-207delinsAAC
ENST00000697302.1:c.88_90delinsAAC ENSP00000513238.1:p.Asn30=
ENST00000697303.1:c.88_90delinsAAC ENSP00000513239.1:p.Asn30=
ENST00000697304.1:c.88_90delinsAAC ENSP00000513240.1:p.Asn30=
ENST00000697306.1:c.88_90delinsAAC ENSP00000513241.1:p.Asn30=
ENST00000697307.1:c.88_90delinsAAC ENSP00000513242.1:p.Asn30=
ENST00000697308.1:c.88_90delinsAAC ENSP00000513243.1:p.Asn30=
ENST00000697309.1:c.88_90delinsAAC ENSP00000513244.1:p.Asn30=
ENST00000697310.1:c.88_90delinsAAC ENSP00000513245.1:p.Asn30=
ENST00000697311.1:c.88_90delinsAAC ENSP00000513246.1:p.Asn30=
ENST00000697312.1:c.88_90delinsAAC ENSP00000513247.1:p.Asn30=
ENST00000697313.1:n.200_202delinsAAC
ENST00000697314.1:n.200_202delinsAAC
ENST00000697315.1:c.88_90delinsAAC ENSP00000513248.1:p.Asn30=
ENST00000697316.1:n.209_211delinsAAC
ENST00000697317.1:n.198_200delinsAAC
ENST00000697318.1:n.200_202delinsAAC
ENST00000265433.8:c.88_90delinsAAC MANE Select ENSP00000265433.4:p.Asn30=
ENST00000265433.7:c.88_90delinsAAC ENSP00000265433.3:p.Asn30=
ENST00000396252.6:c.88_90delinsAAC ENSP00000379551.2:p.Asn30=
ENST00000409330.5:c.-159_-157delinsAAC ENSP00000386924.1:n.-159_-157delinsAAC
ENST00000494804.1:n.192_194delinsAAC
ENST00000517337.1:c.-209_-207delinsAAC ENSP00000429971.1:n.-209_-207delinsAAC
ENST00000519426.5:c.88_90delinsAAC ENSP00000430983.1:p.Asn30=
ENST00000523444.1:c.88_90delinsAAC ENSP00000428252.1:p.Asn30=
NM_001024688.2:c.-209_-207delinsAAC NP_001019859.1:n.-209_-207delinsAAC
NM_002485.4:c.88_90delinsAAC , LRG_158t1:c.88_90delinsAAC NP_002476.2:p.Asn30=
XM_011517044.1:c.64_66delinsAAC XP_011515346.1:p.Asn22=
XM_011517045.1:c.-209_-207delinsAAC XP_011515347.1:n.-209_-207delinsAAC
XM_011517046.1:c.88_90delinsAAC XP_011515348.1:p.Asn30=
XR_928335.1:n.225_227delinsAAC
XM_017013460.1:c.-932_-930delinsAAC XP_016868949.1:n.-932_-930delinsAAC
XM_017013462.2:c.-738_-736delinsAAC XP_016868951.1:n.-738_-736delinsAAC
XM_024447163.1:c.-159_-157delinsAAC XP_024302931.1:n.-159_-157delinsAAC
XM_024447165.1:c.-882_-880delinsAAC XP_024302933.1:n.-882_-880delinsAAC
NM_002485.5:c.88_90delinsAAC MANE Select NP_002476.2:p.Asn30=
NM_001024688.3:c.-209_-207delinsAAC NP_001019859.1:n.-209_-207delinsAAC