Canonical Allele Identifier: CA1801415419
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89937059G= , CM000670.2:g.89937059G= GRCh38
NC_000008.10:g.90949287G= , CM000670.1:g.90949287G= GRCh37
NC_000008.9:g.91018463G= NCBI36
NG_008860.1:g.52613C= , LRG_158:g.52613C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474821.2:n.3621C=
ENST00000494804.2:n.3503C=
ENST00000517337.2:c.1955C= ENSP00000429971.2:p.Ala652=
ENST00000523444.2:c.1955C= ENSP00000428252.2:p.Ala652=
ENST00000697292.1:c.2201C= ENSP00000513229.1:p.Ala734=
ENST00000697293.1:c.2252C= ENSP00000513230.1:p.Ala751=
ENST00000697294.1:c.*1812C= ENSP00000513231.1:n.*1812C=
ENST00000697295.1:c.*1510C= ENSP00000513232.1:n.*1510C=
ENST00000697296.1:c.*1869C= ENSP00000513233.1:n.*1869C=
ENST00000697297.1:n.3986C=
ENST00000697298.1:c.1955C= ENSP00000513234.1:p.Ala652=
ENST00000697299.1:c.1955C= ENSP00000513235.1:p.Ala652=
ENST00000697300.1:c.*1805C= ENSP00000513236.1:n.*1805C=
ENST00000697301.1:c.*1722C= ENSP00000513237.1:n.*1722C=
ENST00000697302.1:c.*1722C= ENSP00000513238.1:n.*1722C=
ENST00000697303.1:c.*1805C= ENSP00000513239.1:n.*1805C=
ENST00000697304.1:c.1889C= ENSP00000513240.1:p.Ala630=
ENST00000697305.1:n.2468C=
ENST00000697306.1:c.*2752C= ENSP00000513241.1:n.*2752C=
ENST00000697307.1:c.1976C= ENSP00000513242.1:p.Ala659=
ENST00000697308.1:c.2132C= ENSP00000513243.1:p.Ala711=
ENST00000697309.1:c.2185-1447C= ENSP00000513244.1:n.2185-1447C=
ENST00000697310.1:c.2201C= ENSP00000513245.1:p.Ala734=
ENST00000697311.1:c.*466C= ENSP00000513246.1:n.*466C=
ENST00000697312.1:c.*1654C= ENSP00000513247.1:n.*1654C=
ENST00000697313.1:n.2688-1447C=
ENST00000697314.1:n.3637-1447C=
ENST00000697315.1:c.*105C= ENSP00000513248.1:n.*105C=
ENST00000697316.1:n.2322C=
ENST00000265433.8:c.2201C= MANE Select ENSP00000265433.4:p.Ala734=
ENST00000265433.7:c.2201C= ENSP00000265433.3:p.Ala734=
ENST00000396252.6:c.*2074C= ENSP00000379551.2:n.*2074C=
ENST00000409330.5:c.1955C= ENSP00000386924.1:p.Ala652=
ENST00000474821.1:n.289C=
ENST00000613033.1:c.311C= ENSP00000484487.1:p.Ala104=
NM_001024688.2:c.1955C= NP_001019859.1:p.Ala652=
NM_002485.4:c.2201C= , LRG_158t1:c.2201C= NP_002476.2:p.Ala734=
XM_011517044.1:c.2177C= XP_011515346.1:p.Ala726=
XM_011517045.1:c.1955C= XP_011515347.1:p.Ala652=
XM_017013460.1:c.1322C= XP_016868949.1:p.Ala441=
XM_017013462.2:c.1322C= XP_016868951.1:p.Ala441=
XM_024447163.1:c.1955C= XP_024302931.1:p.Ala652=
XM_024447164.1:c.1955C= XP_024302932.1:p.Ala652=
XM_024447165.1:c.1322C= XP_024302933.1:p.Ala441=
NM_002485.5:c.2201C= MANE Select NP_002476.2:p.Ala734=
NM_001024688.3:c.1955C= NP_001019859.1:p.Ala652=