Canonical Allele Identifier: CA1801420307

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947889_89947890delinsCT , CM000670.2:g.89947889_89947890delinsCT	GRCh38
NC_000008.10:g.90960117_90960118delinsCT , CM000670.1:g.90960117_90960118delinsCT	GRCh37
NC_000008.9:g.91029293_91029294delinsCT	NCBI36
NG_008860.1:g.41782_41783delinsAG , LRG_158:g.41782_41783delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3150_3151delinsAG
ENST00000517337.2:c.1602_1603delinsAG	ENSP00000429971.2:p.Gln534=
ENST00000523444.2:c.1602_1603delinsAG	ENSP00000428252.2:p.Gln534=
ENST00000697292.1:c.1848_1849delinsAG	ENSP00000513229.1:p.Gln616=
ENST00000697293.1:c.1848_1849delinsAG	ENSP00000513230.1:p.Gln616=
ENST00000697294.1:c.*1459_*1460delinsAG	ENSP00000513231.1:n.*1459_*1460delinsAG
ENST00000697295.1:c.*1157_*1158delinsAG	ENSP00000513232.1:n.*1157_*1158delinsAG
ENST00000697296.1:c.*1516_*1517delinsAG	ENSP00000513233.1:n.*1516_*1517delinsAG
ENST00000697297.1:n.3633_3634delinsAG
ENST00000697298.1:c.1602_1603delinsAG	ENSP00000513234.1:p.Gln534=
ENST00000697299.1:c.1602_1603delinsAG	ENSP00000513235.1:p.Gln534=
ENST00000697300.1:c.*1452_*1453delinsAG	ENSP00000513236.1:n.*1452_*1453delinsAG
ENST00000697301.1:c.*1369_*1370delinsAG	ENSP00000513237.1:n.*1369_*1370delinsAG
ENST00000697302.1:c.*1369_*1370delinsAG	ENSP00000513238.1:n.*1369_*1370delinsAG
ENST00000697303.1:c.*1452_*1453delinsAG	ENSP00000513239.1:n.*1452_*1453delinsAG
ENST00000697304.1:c.1536_1537delinsAG	ENSP00000513240.1:p.Gln512=
ENST00000697306.1:c.*871_*872delinsAG	ENSP00000513241.1:n.*871_*872delinsAG
ENST00000697307.1:c.1846-4524_1846-4523delinsAG	ENSP00000513242.1:n.1846-4524_1846-4523delinsAG
ENST00000697308.1:c.1846-1595_1846-1594delinsAG	ENSP00000513243.1:n.1846-1595_1846-1594delinsAG
ENST00000697309.1:c.1848_1849delinsAG	ENSP00000513244.1:p.Gln616=
ENST00000697310.1:c.1848_1849delinsAG	ENSP00000513245.1:p.Gln616=
ENST00000697311.1:c.1848_1849delinsAG	ENSP00000513246.1:p.Gln616=
ENST00000697312.1:c.*1246_*1247delinsAG	ENSP00000513247.1:n.*1246_*1247delinsAG
ENST00000697313.1:n.2688-12278_2688-12277delinsAG
ENST00000697314.1:n.3636+5354_3636+5355delinsAG
ENST00000697315.1:c.1848_1849delinsAG	ENSP00000513248.1:p.Gln616=
ENST00000697316.1:n.1969_1970delinsAG
ENST00000697317.1:n.1958_1959delinsAG
ENST00000265433.8:c.1848_1849delinsAG MANE Select	ENSP00000265433.4:p.Gln616=
ENST00000265433.7:c.1848_1849delinsAG	ENSP00000265433.3:p.Gln616=
ENST00000396252.6:c.*1721_*1722delinsAG	ENSP00000379551.2:n.*1721_*1722delinsAG
ENST00000409330.5:c.1602_1603delinsAG	ENSP00000386924.1:p.Gln534=
ENST00000613033.1:c.114_115delinsAG	ENSP00000484487.1:p.Gln38=
NM_001024688.2:c.1602_1603delinsAG	NP_001019859.1:p.Gln534=
NM_002485.4:c.1848_1849delinsAG , LRG_158t1:c.1848_1849delinsAG	NP_002476.2:p.Gln616=
XM_011517044.1:c.1824_1825delinsAG	XP_011515346.1:p.Gln608=
XM_011517045.1:c.1602_1603delinsAG	XP_011515347.1:p.Gln534=
XR_928335.1:n.1987_1988delinsAG
XM_017013460.1:c.969_970delinsAG	XP_016868949.1:p.Gln323=
XM_017013462.2:c.969_970delinsAG	XP_016868951.1:p.Gln323=
XM_024447163.1:c.1602_1603delinsAG	XP_024302931.1:p.Gln534=
XM_024447164.1:c.1602_1603delinsAG	XP_024302932.1:p.Gln534=
XM_024447165.1:c.969_970delinsAG	XP_024302933.1:p.Gln323=
NM_002485.5:c.1848_1849delinsAG MANE Select	NP_002476.2:p.Gln616=
NM_001024688.3:c.1602_1603delinsAG	NP_001019859.1:p.Gln534=