Canonical Allele Identifier: CA167158
Gene: NBN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89984563G>T , CM000670.2:g.89984563G>T GRCh38
NC_000008.10:g.90996791G>T , CM000670.1:g.90996791G>T GRCh37
NC_000008.9:g.91065967G>T NCBI36
NG_008860.1:g.5109C>A , LRG_158:g.5109C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.103C>A
ENST00000523444.2:c.-298C>A ENSP00000428252.2:n.-298C>A
ENST00000697292.1:c.-2C>A ENSP00000513229.1:n.-2C>A
ENST00000697293.1:c.-2C>A ENSP00000513230.1:n.-2C>A
ENST00000697294.1:c.-2C>A ENSP00000513231.1:n.-2C>A
ENST00000697295.1:c.-2C>A ENSP00000513232.1:n.-2C>A
ENST00000697296.1:c.-2C>A ENSP00000513233.1:n.-2C>A
ENST00000697297.1:n.105C>A
ENST00000697298.1:c.-481C>A ENSP00000513234.1:n.-481C>A
ENST00000697299.1:c.-114C>A ENSP00000513235.1:n.-114C>A
ENST00000697300.1:c.-298C>A ENSP00000513236.1:n.-298C>A
ENST00000697301.1:c.-298C>A ENSP00000513237.1:n.-298C>A
ENST00000697302.1:c.-2C>A ENSP00000513238.1:n.-2C>A
ENST00000697303.1:c.-2C>A ENSP00000513239.1:n.-2C>A
ENST00000697304.1:c.-2C>A ENSP00000513240.1:n.-2C>A
ENST00000697306.1:c.-2C>A ENSP00000513241.1:n.-2C>A
ENST00000697307.1:c.-2C>A ENSP00000513242.1:n.-2C>A
ENST00000697308.1:c.-2C>A ENSP00000513243.1:n.-2C>A
ENST00000697309.1:c.-2C>A ENSP00000513244.1:n.-2C>A
ENST00000697310.1:c.-2C>A ENSP00000513245.1:n.-2C>A
ENST00000697311.1:c.-2C>A ENSP00000513246.1:n.-2C>A
ENST00000697312.1:c.-2C>A ENSP00000513247.1:n.-2C>A
ENST00000697313.1:n.111C>A
ENST00000697314.1:n.111C>A
ENST00000697315.1:c.-2C>A ENSP00000513248.1:n.-2C>A
ENST00000697316.1:n.120C>A
ENST00000697317.1:n.109C>A
ENST00000697318.1:n.111C>A
ENST00000265433.8:c.-2C>A MANE Select ENSP00000265433.4:n.-2C>A
ENST00000265433.7:c.-2C>A ENSP00000265433.3:n.-2C>A
ENST00000396252.6:c.-2C>A ENSP00000379551.2:n.-2C>A
ENST00000494804.1:n.103C>A
ENST00000519426.5:c.-2C>A ENSP00000430983.1:n.-2C>A
ENST00000523444.1:c.-2C>A ENSP00000428252.1:n.-2C>A
NM_001024688.2:c.-298C>A NP_001019859.1:n.-298C>A
NM_002485.4:c.-2C>A , LRG_158t1:c.-2C>A NP_002476.2:n.-2C>A
XM_011517046.1:c.-2C>A XP_011515348.1:n.-2C>A
XR_928335.1:n.136C>A
XM_017013460.1:c.-1021C>A XP_016868949.1:n.-1021C>A
XM_017013462.2:c.-827C>A XP_016868951.1:n.-827C>A
XM_024447165.1:c.-971C>A XP_024302933.1:n.-971C>A
NM_002485.5:c.-2C>A MANE Select NP_002476.2:n.-2C>A
NM_001024688.3:c.-298C>A NP_001019859.1:n.-298C>A
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