Canonical Allele Identifier: CA1801423031

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953707_89953710delinsAAAG , CM000670.2:g.89953707_89953710delinsAAAG	GRCh38
NC_000008.10:g.90965935_90965938delinsAAAG , CM000670.1:g.90965935_90965938delinsAAAG	GRCh37
NC_000008.9:g.91035111_91035114delinsAAAG	NCBI36
NG_008860.1:g.35962_35965delinsCTTT , LRG_158:g.35962_35965delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-19_2700-16delinsCTTT
ENST00000517337.2:c.1152-19_1152-16delinsCTTT	ENSP00000429971.2:n.1152-19_1152-16delinsCTTT
ENST00000523444.2:c.1152-19_1152-16delinsCTTT	ENSP00000428252.2:n.1152-19_1152-16delinsCTTT
ENST00000697292.1:c.1398-19_1398-16delinsCTTT	ENSP00000513229.1:n.1398-19_1398-16delinsCTTT
ENST00000697293.1:c.1398-19_1398-16delinsCTTT	ENSP00000513230.1:n.1398-19_1398-16delinsCTTT
ENST00000697294.1:c.*1009-19_*1009-16delinsCTTT	ENSP00000513231.1:n.*1009-19_*1009-16delinsCTTT
ENST00000697295.1:c.*707-19_*707-16delinsCTTT	ENSP00000513232.1:n.*707-19_*707-16delinsCTTT
ENST00000697296.1:c.*1066-19_*1066-16delinsCTTT	ENSP00000513233.1:n.*1066-19_*1066-16delinsCTTT
ENST00000697297.1:n.3183-19_3183-16delinsCTTT
ENST00000697298.1:c.1152-19_1152-16delinsCTTT	ENSP00000513234.1:n.1152-19_1152-16delinsCTTT
ENST00000697299.1:c.1152-19_1152-16delinsCTTT	ENSP00000513235.1:n.1152-19_1152-16delinsCTTT
ENST00000697300.1:c.*1002-19_*1002-16delinsCTTT	ENSP00000513236.1:n.*1002-19_*1002-16delinsCTTT
ENST00000697301.1:c.*919-19_*919-16delinsCTTT	ENSP00000513237.1:n.*919-19_*919-16delinsCTTT
ENST00000697302.1:c.*919-19_*919-16delinsCTTT	ENSP00000513238.1:n.*919-19_*919-16delinsCTTT
ENST00000697303.1:c.*1002-19_*1002-16delinsCTTT	ENSP00000513239.1:n.*1002-19_*1002-16delinsCTTT
ENST00000697304.1:c.1086-19_1086-16delinsCTTT	ENSP00000513240.1:n.1086-19_1086-16delinsCTTT
ENST00000697306.1:c.*398-19_*398-16delinsCTTT	ENSP00000513241.1:n.*398-19_*398-16delinsCTTT
ENST00000697307.1:c.1398-19_1398-16delinsCTTT	ENSP00000513242.1:n.1398-19_1398-16delinsCTTT
ENST00000697308.1:c.1398-19_1398-16delinsCTTT	ENSP00000513243.1:n.1398-19_1398-16delinsCTTT
ENST00000697309.1:c.1398-19_1398-16delinsCTTT	ENSP00000513244.1:n.1398-19_1398-16delinsCTTT
ENST00000697310.1:c.1398-19_1398-16delinsCTTT	ENSP00000513245.1:n.1398-19_1398-16delinsCTTT
ENST00000697311.1:c.1398-19_1398-16delinsCTTT	ENSP00000513246.1:n.1398-19_1398-16delinsCTTT
ENST00000697312.1:c.*796-19_*796-16delinsCTTT	ENSP00000513247.1:n.*796-19_*796-16delinsCTTT
ENST00000697313.1:n.2687+16654_2687+16657delinsCTTT
ENST00000697314.1:n.3189-19_3189-16delinsCTTT
ENST00000697315.1:c.1398-19_1398-16delinsCTTT	ENSP00000513248.1:n.1398-19_1398-16delinsCTTT
ENST00000697316.1:n.1519-19_1519-16delinsCTTT
ENST00000697317.1:n.1508-19_1508-16delinsCTTT
ENST00000697318.1:n.1510-19_1510-16delinsCTTT
ENST00000265433.8:c.1398-19_1398-16delinsCTTT MANE Select	ENSP00000265433.4:n.1398-19_1398-16delinsCTTT
ENST00000265433.7:c.1398-19_1398-16delinsCTTT	ENSP00000265433.3:n.1398-19_1398-16delinsCTTT
ENST00000396252.6:c.*1271-19_*1271-16delinsCTTT	ENSP00000379551.2:n.*1271-19_*1271-16delinsCTTT
ENST00000409330.5:c.1152-19_1152-16delinsCTTT	ENSP00000386924.1:n.1152-19_1152-16delinsCTTT
NM_001024688.2:c.1152-19_1152-16delinsCTTT	NP_001019859.1:n.1152-19_1152-16delinsCTTT
NM_002485.4:c.1398-19_1398-16delinsCTTT , LRG_158t1:c.1398-19_1398-16delinsCTTT	NP_002476.2:n.1398-19_1398-16delinsCTTT
XM_011517044.1:c.1374-19_1374-16delinsCTTT	XP_011515346.1:n.1374-19_1374-16delinsCTTT
XM_011517045.1:c.1152-19_1152-16delinsCTTT	XP_011515347.1:n.1152-19_1152-16delinsCTTT
XM_011517046.1:c.1396-16_1396-13delinsCTTT	XP_011515348.1:n.1396-16_1396-13delinsCTTT
XR_928335.1:n.1534-16_1534-13delinsCTTT
XM_017013460.1:c.519-19_519-16delinsCTTT	XP_016868949.1:n.519-19_519-16delinsCTTT
XM_017013462.2:c.519-19_519-16delinsCTTT	XP_016868951.1:n.519-19_519-16delinsCTTT
XM_024447163.1:c.1152-19_1152-16delinsCTTT	XP_024302931.1:n.1152-19_1152-16delinsCTTT
XM_024447164.1:c.1152-19_1152-16delinsCTTT	XP_024302932.1:n.1152-19_1152-16delinsCTTT
XM_024447165.1:c.519-19_519-16delinsCTTT	XP_024302933.1:n.519-19_519-16delinsCTTT
NM_002485.5:c.1398-19_1398-16delinsCTTT MANE Select	NP_002476.2:n.1398-19_1398-16delinsCTTT
NM_001024688.3:c.1152-19_1152-16delinsCTTT	NP_001019859.1:n.1152-19_1152-16delinsCTTT