Canonical Allele Identifier: CA1801420313

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947898_89947903delinsGAAATA , CM000670.2:g.89947898_89947903delinsGAAATA	GRCh38
NC_000008.10:g.90960126_90960131delinsGAAATA , CM000670.1:g.90960126_90960131delinsGAAATA	GRCh37
NC_000008.9:g.91029302_91029307delinsGAAATA	NCBI36
NG_008860.1:g.41769_41774delinsTATTTC , LRG_158:g.41769_41774delinsTATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3148-11_3148-6delinsTATTTC
ENST00000517337.2:c.1600-11_1600-6delinsTATTTC	ENSP00000429971.2:n.1600-11_1600-6delinsTATTTC
ENST00000523444.2:c.1600-11_1600-6delinsTATTTC	ENSP00000428252.2:n.1600-11_1600-6delinsTATTTC
ENST00000697292.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513229.1:n.1846-11_1846-6delinsTATTTC
ENST00000697293.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513230.1:n.1846-11_1846-6delinsTATTTC
ENST00000697294.1:c.*1457-11_*1457-6delinsTATTTC	ENSP00000513231.1:n.*1457-11_*1457-6delinsTATTTC
ENST00000697295.1:c.*1155-11_*1155-6delinsTATTTC	ENSP00000513232.1:n.*1155-11_*1155-6delinsTATTTC
ENST00000697296.1:c.*1514-11_*1514-6delinsTATTTC	ENSP00000513233.1:n.*1514-11_*1514-6delinsTATTTC
ENST00000697297.1:n.3631-11_3631-6delinsTATTTC
ENST00000697298.1:c.1600-11_1600-6delinsTATTTC	ENSP00000513234.1:n.1600-11_1600-6delinsTATTTC
ENST00000697299.1:c.1600-11_1600-6delinsTATTTC	ENSP00000513235.1:n.1600-11_1600-6delinsTATTTC
ENST00000697300.1:c.*1450-11_*1450-6delinsTATTTC	ENSP00000513236.1:n.*1450-11_*1450-6delinsTATTTC
ENST00000697301.1:c.*1367-11_*1367-6delinsTATTTC	ENSP00000513237.1:n.*1367-11_*1367-6delinsTATTTC
ENST00000697302.1:c.*1367-11_*1367-6delinsTATTTC	ENSP00000513238.1:n.*1367-11_*1367-6delinsTATTTC
ENST00000697303.1:c.*1450-11_*1450-6delinsTATTTC	ENSP00000513239.1:n.*1450-11_*1450-6delinsTATTTC
ENST00000697304.1:c.1534-11_1534-6delinsTATTTC	ENSP00000513240.1:n.1534-11_1534-6delinsTATTTC
ENST00000697306.1:c.*858_*863delinsTATTTC	ENSP00000513241.1:n.*858_*863delinsTATTTC
ENST00000697307.1:c.1846-4537_1846-4532delinsTATTTC	ENSP00000513242.1:n.1846-4537_1846-4532delinsTATTTC
ENST00000697308.1:c.1846-1608_1846-1603delinsTATTTC	ENSP00000513243.1:n.1846-1608_1846-1603delinsTATTTC
ENST00000697309.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513244.1:n.1846-11_1846-6delinsTATTTC
ENST00000697310.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513245.1:n.1846-11_1846-6delinsTATTTC
ENST00000697311.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513246.1:n.1846-11_1846-6delinsTATTTC
ENST00000697312.1:c.*1244-11_*1244-6delinsTATTTC	ENSP00000513247.1:n.*1244-11_*1244-6delinsTATTTC
ENST00000697313.1:n.2688-12291_2688-12286delinsTATTTC
ENST00000697314.1:n.3636+5341_3636+5346delinsTATTTC
ENST00000697315.1:c.1846-11_1846-6delinsTATTTC	ENSP00000513248.1:n.1846-11_1846-6delinsTATTTC
ENST00000697316.1:n.1967-11_1967-6delinsTATTTC
ENST00000697317.1:n.1956-11_1956-6delinsTATTTC
ENST00000265433.8:c.1846-11_1846-6delinsTATTTC MANE Select	ENSP00000265433.4:n.1846-11_1846-6delinsTATTTC
ENST00000265433.7:c.1846-11_1846-6delinsTATTTC	ENSP00000265433.3:n.1846-11_1846-6delinsTATTTC
ENST00000396252.6:c.*1719-11_*1719-6delinsTATTTC	ENSP00000379551.2:n.*1719-11_*1719-6delinsTATTTC
ENST00000409330.5:c.1600-11_1600-6delinsTATTTC	ENSP00000386924.1:n.1600-11_1600-6delinsTATTTC
ENST00000613033.1:c.112-11_112-6delinsTATTTC	ENSP00000484487.1:n.112-11_112-6delinsTATTTC
NM_001024688.2:c.1600-11_1600-6delinsTATTTC	NP_001019859.1:n.1600-11_1600-6delinsTATTTC
NM_002485.4:c.1846-11_1846-6delinsTATTTC , LRG_158t1:c.1846-11_1846-6delinsTATTTC	NP_002476.2:n.1846-11_1846-6delinsTATTTC
XM_011517044.1:c.1822-11_1822-6delinsTATTTC	XP_011515346.1:n.1822-11_1822-6delinsTATTTC
XM_011517045.1:c.1600-11_1600-6delinsTATTTC	XP_011515347.1:n.1600-11_1600-6delinsTATTTC
XR_928335.1:n.1985-11_1985-6delinsTATTTC
XM_017013460.1:c.967-11_967-6delinsTATTTC	XP_016868949.1:n.967-11_967-6delinsTATTTC
XM_017013462.2:c.967-11_967-6delinsTATTTC	XP_016868951.1:n.967-11_967-6delinsTATTTC
XM_024447163.1:c.1600-11_1600-6delinsTATTTC	XP_024302931.1:n.1600-11_1600-6delinsTATTTC
XM_024447164.1:c.1600-11_1600-6delinsTATTTC	XP_024302932.1:n.1600-11_1600-6delinsTATTTC
XM_024447165.1:c.967-11_967-6delinsTATTTC	XP_024302933.1:n.967-11_967-6delinsTATTTC
NM_002485.5:c.1846-11_1846-6delinsTATTTC MANE Select	NP_002476.2:n.1846-11_1846-6delinsTATTTC
NM_001024688.3:c.1600-11_1600-6delinsTATTTC	NP_001019859.1:n.1600-11_1600-6delinsTATTTC