Canonical Allele Identifier: CA371675814

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943347C>T , CM000670.2:g.89943347C>T	GRCh38
NC_000008.10:g.90955575C>T , CM000670.1:g.90955575C>T	GRCh37
NC_000008.9:g.91024751C>T	NCBI36
NG_008860.1:g.46325G>A , LRG_158:g.46325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3392G>A
ENST00000517337.2:c.1844G>A	ENSP00000429971.2:p.Gly615Glu
ENST00000523444.2:c.1844G>A	ENSP00000428252.2:p.Gly615Glu
ENST00000697292.1:c.2090G>A	ENSP00000513229.1:p.Gly697Glu
ENST00000697293.1:c.2090G>A	ENSP00000513230.1:p.Gly697Glu
ENST00000697294.1:c.*1701G>A	ENSP00000513231.1:n.*1701G>A
ENST00000697295.1:c.*1399G>A	ENSP00000513232.1:n.*1399G>A
ENST00000697296.1:c.*1758G>A	ENSP00000513233.1:n.*1758G>A
ENST00000697297.1:n.3875G>A
ENST00000697298.1:c.1844G>A	ENSP00000513234.1:p.Gly615Glu
ENST00000697299.1:c.1844G>A	ENSP00000513235.1:p.Gly615Glu
ENST00000697300.1:c.*1694G>A	ENSP00000513236.1:n.*1694G>A
ENST00000697301.1:c.*1611G>A	ENSP00000513237.1:n.*1611G>A
ENST00000697302.1:c.*1611G>A	ENSP00000513238.1:n.*1611G>A
ENST00000697303.1:c.*1694G>A	ENSP00000513239.1:n.*1694G>A
ENST00000697304.1:c.1778G>A	ENSP00000513240.1:p.Gly593Glu
ENST00000697305.1:n.2357G>A
ENST00000697306.1:c.*2641G>A	ENSP00000513241.1:n.*2641G>A
ENST00000697307.1:c.1865G>A	ENSP00000513242.1:p.Gly622Glu
ENST00000697308.1:c.2021G>A	ENSP00000513243.1:p.Gly674Glu
ENST00000697309.1:c.2090G>A	ENSP00000513244.1:p.Gly697Glu
ENST00000697310.1:c.2090G>A	ENSP00000513245.1:p.Gly697Glu
ENST00000697311.1:c.2090G>A	ENSP00000513246.1:p.Gly697Glu
ENST00000697312.1:c.*1488G>A	ENSP00000513247.1:n.*1488G>A
ENST00000697313.1:n.2688-7735G>A
ENST00000697314.1:n.3637-7735G>A
ENST00000697315.1:c.2090G>A	ENSP00000513248.1:p.Gly697Glu
ENST00000697316.1:n.2211G>A
ENST00000265433.8:c.2090G>A MANE Select	ENSP00000265433.4:p.Gly697Glu
ENST00000265433.7:c.2090G>A	ENSP00000265433.3:p.Gly697Glu
ENST00000396252.6:c.*1963G>A	ENSP00000379551.2:n.*1963G>A
ENST00000409330.5:c.1844G>A	ENSP00000386924.1:p.Gly615Glu
ENST00000613033.1:c.200G>A	ENSP00000484487.1:p.Gly67Glu
NM_001024688.2:c.1844G>A	NP_001019859.1:p.Gly615Glu
NM_002485.4:c.2090G>A , LRG_158t1:c.2090G>A	NP_002476.2:p.Gly697Glu
XM_011517044.1:c.2066G>A	XP_011515346.1:p.Gly689Glu
XM_011517045.1:c.1844G>A	XP_011515347.1:p.Gly615Glu
XM_017013460.1:c.1211G>A	XP_016868949.1:p.Gly404Glu
XM_017013462.2:c.1211G>A	XP_016868951.1:p.Gly404Glu
XM_024447163.1:c.1844G>A	XP_024302931.1:p.Gly615Glu
XM_024447164.1:c.1844G>A	XP_024302932.1:p.Gly615Glu
XM_024447165.1:c.1211G>A	XP_024302933.1:p.Gly404Glu
NM_002485.5:c.2090G>A MANE Select	NP_002476.2:p.Gly697Glu
NM_001024688.3:c.1844G>A	NP_001019859.1:p.Gly615Glu