Canonical Allele Identifier: CA1801419506

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946193_89946194delinsAT , CM000670.2:g.89946193_89946194delinsAT	GRCh38
NC_000008.10:g.90958421_90958422delinsAT , CM000670.1:g.90958421_90958422delinsAT	GRCh37
NC_000008.9:g.91027597_91027598delinsAT	NCBI36
NG_008860.1:g.43478_43479delinsAT , LRG_158:g.43478_43479delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3318_3319delinsAT
ENST00000517337.2:c.1770_1771delinsAT	ENSP00000429971.2:p.Pro590=
ENST00000523444.2:c.1770_1771delinsAT	ENSP00000428252.2:p.Pro590=
ENST00000697292.1:c.2016_2017delinsAT	ENSP00000513229.1:p.Pro672=
ENST00000697293.1:c.2016_2017delinsAT	ENSP00000513230.1:p.Pro672=
ENST00000697294.1:c.*1627_*1628delinsAT	ENSP00000513231.1:n.*1627_*1628delinsAT
ENST00000697295.1:c.*1325_*1326delinsAT	ENSP00000513232.1:n.*1325_*1326delinsAT
ENST00000697296.1:c.*1684_*1685delinsAT	ENSP00000513233.1:n.*1684_*1685delinsAT
ENST00000697297.1:n.3801_3802delinsAT
ENST00000697298.1:c.1770_1771delinsAT	ENSP00000513234.1:p.Pro590=
ENST00000697299.1:c.1770_1771delinsAT	ENSP00000513235.1:p.Pro590=
ENST00000697300.1:c.*1620_*1621delinsAT	ENSP00000513236.1:n.*1620_*1621delinsAT
ENST00000697301.1:c.*1537_*1538delinsAT	ENSP00000513237.1:n.*1537_*1538delinsAT
ENST00000697302.1:c.*1537_*1538delinsAT	ENSP00000513238.1:n.*1537_*1538delinsAT
ENST00000697303.1:c.*1620_*1621delinsAT	ENSP00000513239.1:n.*1620_*1621delinsAT
ENST00000697304.1:c.1704_1705delinsAT	ENSP00000513240.1:p.Pro568=
ENST00000697306.1:c.*2567_*2568delinsAT	ENSP00000513241.1:n.*2567_*2568delinsAT
ENST00000697307.1:c.1846-2828_1846-2827delinsAT	ENSP00000513242.1:n.1846-2828_1846-2827delinsAT
ENST00000697308.1:c.1947_1948delinsAT	ENSP00000513243.1:p.Pro649=
ENST00000697309.1:c.2016_2017delinsAT	ENSP00000513244.1:p.Pro672=
ENST00000697310.1:c.2016_2017delinsAT	ENSP00000513245.1:p.Pro672=
ENST00000697311.1:c.2016_2017delinsAT	ENSP00000513246.1:p.Pro672=
ENST00000697312.1:c.*1414_*1415delinsAT	ENSP00000513247.1:n.*1414_*1415delinsAT
ENST00000697313.1:n.2688-10582_2688-10581delinsAT
ENST00000697314.1:n.3636+7050_3636+7051delinsAT
ENST00000697315.1:c.2016_2017delinsAT	ENSP00000513248.1:p.Pro672=
ENST00000697316.1:n.2137_2138delinsAT
ENST00000697317.1:n.2107_2108delinsAT
ENST00000265433.8:c.2016_2017delinsAT MANE Select	ENSP00000265433.4:p.Pro672=
ENST00000265433.7:c.2016_2017delinsAT	ENSP00000265433.3:p.Pro672=
ENST00000396252.6:c.*1889_*1890delinsAT	ENSP00000379551.2:n.*1889_*1890delinsAT
ENST00000409330.5:c.1770_1771delinsAT	ENSP00000386924.1:p.Pro590=
ENST00000520325.1:n.432_433delinsAT
ENST00000613033.1:c.180+1630_180+1631delinsAT	ENSP00000484487.1:n.180+1630_180+1631delinsAT
NM_001024688.2:c.1770_1771delinsAT	NP_001019859.1:p.Pro590=
NM_002485.4:c.2016_2017delinsAT , LRG_158t1:c.2016_2017delinsAT	NP_002476.2:p.Pro672=
XM_011517044.1:c.1992_1993delinsAT	XP_011515346.1:p.Pro664=
XM_011517045.1:c.1770_1771delinsAT	XP_011515347.1:p.Pro590=
XM_017013460.1:c.1137_1138delinsAT	XP_016868949.1:p.Pro379=
XM_017013462.2:c.1137_1138delinsAT	XP_016868951.1:p.Pro379=
XM_024447163.1:c.1770_1771delinsAT	XP_024302931.1:p.Pro590=
XM_024447164.1:c.1770_1771delinsAT	XP_024302932.1:p.Pro590=
XM_024447165.1:c.1137_1138delinsAT	XP_024302933.1:p.Pro379=
NM_002485.5:c.2016_2017delinsAT MANE Select	NP_002476.2:p.Pro672=
NM_001024688.3:c.1770_1771delinsAT	NP_001019859.1:p.Pro590=