Canonical Allele Identifier: CA371656107
Community Standard Title: NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955353T>A , CM000670.2:g.89955353T>A GRCh38
NC_000008.10:g.90967581T>A , CM000670.1:g.90967581T>A GRCh37
NC_000008.9:g.91036757T>A NCBI36
NG_008860.1:g.34319A>T , LRG_158:g.34319A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.1327A>T MANE Select NP_002476.2:p.Lys443Ter
ENST00000265433.8:c.1327A>T MANE Select ENSP00000265433.4:p.Lys443Ter
NM_001024688.2:c.1081A>T NP_001019859.1:p.Lys361Ter
NM_001024688.3:c.1081A>T NP_001019859.1:p.Lys361Ter
NM_002485.4:c.1327A>T , LRG_158t1:c.1327A>T NP_002476.2:p.Lys443Ter
ENST00000265433.7:c.1327A>T ENSP00000265433.3:p.Lys443Ter
ENST00000396252.6:c.*1200A>T ENSP00000379551.2:n.*1200A>T
ENST00000409330.5:c.1081A>T ENSP00000386924.1:p.Lys361Ter
ENST00000494804.2:n.2629A>T
ENST00000517337.2:c.1081A>T ENSP00000429971.2:p.Lys361Ter
ENST00000523444.2:c.1081A>T ENSP00000428252.2:p.Lys361Ter
ENST00000697292.1:c.1327A>T ENSP00000513229.1:p.Lys443Ter
ENST00000697293.1:c.1327A>T ENSP00000513230.1:p.Lys443Ter
ENST00000697294.1:c.*938A>T ENSP00000513231.1:n.*938A>T
ENST00000697295.1:c.*636A>T ENSP00000513232.1:n.*636A>T
ENST00000697296.1:c.*995A>T ENSP00000513233.1:n.*995A>T
ENST00000697297.1:n.3112A>T
ENST00000697298.1:c.1081A>T ENSP00000513234.1:p.Lys361Ter
ENST00000697299.1:c.1081A>T ENSP00000513235.1:p.Lys361Ter
ENST00000697300.1:c.*931A>T ENSP00000513236.1:n.*931A>T
ENST00000697301.1:c.*848A>T ENSP00000513237.1:n.*848A>T
ENST00000697302.1:c.*848A>T ENSP00000513238.1:n.*848A>T
ENST00000697303.1:c.*931A>T ENSP00000513239.1:n.*931A>T
ENST00000697304.1:c.1015A>T ENSP00000513240.1:p.Lys339Ter
ENST00000697306.1:c.*327A>T ENSP00000513241.1:n.*327A>T
ENST00000697307.1:c.1327A>T ENSP00000513242.1:p.Lys443Ter
ENST00000697308.1:c.1327A>T ENSP00000513243.1:p.Lys443Ter
ENST00000697309.1:c.1327A>T ENSP00000513244.1:p.Lys443Ter
ENST00000697310.1:c.1327A>T ENSP00000513245.1:p.Lys443Ter
ENST00000697311.1:c.1327A>T ENSP00000513246.1:p.Lys443Ter
ENST00000697312.1:c.*725A>T ENSP00000513247.1:n.*725A>T
ENST00000697313.1:n.2687+15011A>T
ENST00000697314.1:n.3118A>T
ENST00000697315.1:c.1327A>T ENSP00000513248.1:p.Lys443Ter
ENST00000697316.1:n.1448A>T
ENST00000697317.1:n.1437A>T
ENST00000697318.1:n.1439A>T
XM_011517044.1:c.1303A>T XP_011515346.1:p.Lys435Ter
XM_011517045.1:c.1081A>T XP_011515347.1:p.Lys361Ter
XM_011517046.1:c.1327A>T XP_011515348.1:p.Lys443Ter
XM_017013460.1:c.448A>T XP_016868949.1:p.Lys150Ter
XM_017013462.2:c.448A>T XP_016868951.1:p.Lys150Ter
XM_024447163.1:c.1081A>T XP_024302931.1:p.Lys361Ter
XM_024447164.1:c.1081A>T XP_024302932.1:p.Lys361Ter
XM_024447165.1:c.448A>T XP_024302933.1:p.Lys150Ter
XR_928335.1:n.1464A>T