Canonical Allele Identifier: CA239214

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955337T>A , CM000670.2:g.89955337T>A	GRCh38
NC_000008.10:g.90967565T>A , CM000670.1:g.90967565T>A	GRCh37
NC_000008.9:g.91036741T>A	NCBI36
NG_008860.1:g.34335A>T , LRG_158:g.34335A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2645A>T
ENST00000517337.2:c.1097A>T	ENSP00000429971.2:p.Gln366Leu
ENST00000523444.2:c.1097A>T	ENSP00000428252.2:p.Gln366Leu
ENST00000697292.1:c.1343A>T	ENSP00000513229.1:p.Gln448Leu
ENST00000697293.1:c.1343A>T	ENSP00000513230.1:p.Gln448Leu
ENST00000697294.1:c.*954A>T	ENSP00000513231.1:n.*954A>T
ENST00000697295.1:c.*652A>T	ENSP00000513232.1:n.*652A>T
ENST00000697296.1:c.*1011A>T	ENSP00000513233.1:n.*1011A>T
ENST00000697297.1:n.3128A>T
ENST00000697298.1:c.1097A>T	ENSP00000513234.1:p.Gln366Leu
ENST00000697299.1:c.1097A>T	ENSP00000513235.1:p.Gln366Leu
ENST00000697300.1:c.*947A>T	ENSP00000513236.1:n.*947A>T
ENST00000697301.1:c.*864A>T	ENSP00000513237.1:n.*864A>T
ENST00000697302.1:c.*864A>T	ENSP00000513238.1:n.*864A>T
ENST00000697303.1:c.*947A>T	ENSP00000513239.1:n.*947A>T
ENST00000697304.1:c.1031A>T	ENSP00000513240.1:p.Gln344Leu
ENST00000697306.1:c.*343A>T	ENSP00000513241.1:n.*343A>T
ENST00000697307.1:c.1343A>T	ENSP00000513242.1:p.Gln448Leu
ENST00000697308.1:c.1343A>T	ENSP00000513243.1:p.Gln448Leu
ENST00000697309.1:c.1343A>T	ENSP00000513244.1:p.Gln448Leu
ENST00000697310.1:c.1343A>T	ENSP00000513245.1:p.Gln448Leu
ENST00000697311.1:c.1343A>T	ENSP00000513246.1:p.Gln448Leu
ENST00000697312.1:c.*741A>T	ENSP00000513247.1:n.*741A>T
ENST00000697313.1:n.2687+15027A>T
ENST00000697314.1:n.3134A>T
ENST00000697315.1:c.1343A>T	ENSP00000513248.1:p.Gln448Leu
ENST00000697316.1:n.1464A>T
ENST00000697317.1:n.1453A>T
ENST00000697318.1:n.1455A>T
ENST00000265433.8:c.1343A>T MANE Select	ENSP00000265433.4:p.Gln448Leu
ENST00000265433.7:c.1343A>T	ENSP00000265433.3:p.Gln448Leu
ENST00000396252.6:c.*1216A>T	ENSP00000379551.2:n.*1216A>T
ENST00000409330.5:c.1097A>T	ENSP00000386924.1:p.Gln366Leu
NM_001024688.2:c.1097A>T	NP_001019859.1:p.Gln366Leu
NM_002485.4:c.1343A>T , LRG_158t1:c.1343A>T	NP_002476.2:p.Gln448Leu
XM_011517044.1:c.1319A>T	XP_011515346.1:p.Gln440Leu
XM_011517045.1:c.1097A>T	XP_011515347.1:p.Gln366Leu
XM_011517046.1:c.1343A>T	XP_011515348.1:p.Gln448Leu
XR_928335.1:n.1480A>T
XM_017013460.1:c.464A>T	XP_016868949.1:p.Gln155Leu
XM_017013462.2:c.464A>T	XP_016868951.1:p.Gln155Leu
XM_024447163.1:c.1097A>T	XP_024302931.1:p.Gln366Leu
XM_024447164.1:c.1097A>T	XP_024302932.1:p.Gln366Leu
XM_024447165.1:c.464A>T	XP_024302933.1:p.Gln155Leu
NM_002485.5:c.1343A>T MANE Select	NP_002476.2:p.Gln448Leu
NM_001024688.3:c.1097A>T	NP_001019859.1:p.Gln366Leu