Canonical Allele Identifier: CA2558149636

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980497_89980498insAC , CM000670.2:g.89980497_89980498insAC	GRCh38
NC_000008.10:g.90992725_90992726insAC , CM000670.1:g.90992725_90992726insAC	GRCh37
NC_000008.9:g.91061901_91061902insAC	NCBI36
NG_008860.1:g.9174_9175insGT , LRG_158:g.9174_9175insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1782+236_1782+237insGT
ENST00000517337.2:c.234+236_234+237insGT	ENSP00000429971.2:n.234+236_234+237insGT
ENST00000523444.2:c.234+236_234+237insGT	ENSP00000428252.2:n.234+236_234+237insGT
ENST00000697292.1:c.480+236_480+237insGT	ENSP00000513229.1:n.480+236_480+237insGT
ENST00000697293.1:c.480+236_480+237insGT	ENSP00000513230.1:n.480+236_480+237insGT
ENST00000697294.1:c.*2-70_*2-69insGT	ENSP00000513231.1:n.*2-70_*2-69insGT
ENST00000697295.1:c.37+4027_37+4028insGT	ENSP00000513232.1:n.37+4027_37+4028insGT
ENST00000697296.1:c.*148+236_*148+237insGT	ENSP00000513233.1:n.*148+236_*148+237insGT
ENST00000697297.1:n.2265+236_2265+237insGT
ENST00000697298.1:c.234+236_234+237insGT	ENSP00000513234.1:n.234+236_234+237insGT
ENST00000697299.1:c.234+236_234+237insGT	ENSP00000513235.1:n.234+236_234+237insGT
ENST00000697300.1:c.235-70_235-69insGT	ENSP00000513236.1:n.235-70_235-69insGT
ENST00000697301.1:c.*1+236_*1+237insGT	ENSP00000513237.1:n.*1+236_*1+237insGT
ENST00000697302.1:c.*1+236_*1+237insGT	ENSP00000513238.1:n.*1+236_*1+237insGT
ENST00000697303.1:c.481-70_481-69insGT	ENSP00000513239.1:n.481-70_481-69insGT
ENST00000697304.1:c.480+236_480+237insGT	ENSP00000513240.1:n.480+236_480+237insGT
ENST00000697306.1:c.480+236_480+237insGT	ENSP00000513241.1:n.480+236_480+237insGT
ENST00000697307.1:c.480+236_480+237insGT	ENSP00000513242.1:n.480+236_480+237insGT
ENST00000697308.1:c.480+236_480+237insGT	ENSP00000513243.1:n.480+236_480+237insGT
ENST00000697309.1:c.480+236_480+237insGT	ENSP00000513244.1:n.480+236_480+237insGT
ENST00000697310.1:c.480+236_480+237insGT	ENSP00000513245.1:n.480+236_480+237insGT
ENST00000697311.1:c.480+236_480+237insGT	ENSP00000513246.1:n.480+236_480+237insGT
ENST00000697312.1:c.480+236_480+237insGT	ENSP00000513247.1:n.480+236_480+237insGT
ENST00000697313.1:n.2271+236_2271+237insGT
ENST00000697314.1:n.2271+236_2271+237insGT
ENST00000697315.1:c.480+236_480+237insGT	ENSP00000513248.1:n.480+236_480+237insGT
ENST00000697316.1:n.601+236_601+237insGT
ENST00000697317.1:n.590+236_590+237insGT
ENST00000697318.1:n.592+236_592+237insGT
ENST00000265433.8:c.480+236_480+237insGT MANE Select	ENSP00000265433.4:n.480+236_480+237insGT
ENST00000265433.7:c.480+236_480+237insGT	ENSP00000265433.3:n.480+236_480+237insGT
ENST00000396252.6:c.*353+236_*353+237insGT	ENSP00000379551.2:n.*353+236_*353+237insGT
ENST00000409330.5:c.234+236_234+237insGT	ENSP00000386924.1:n.234+236_234+237insGT
ENST00000517337.1:c.234+236_234+237insGT	ENSP00000429971.1:n.234+236_234+237insGT
ENST00000517772.5:c.234+236_234+237insGT	ENSP00000428717.1:n.234+236_234+237insGT
ENST00000519426.5:c.320+877_320+878insGT	ENSP00000430983.1:n.320+877_320+878insGT
ENST00000523444.1:c.*312+236_*312+237insGT	ENSP00000428252.1:n.*312+236_*312+237insGT
NM_001024688.2:c.234+236_234+237insGT	NP_001019859.1:n.234+236_234+237insGT
NM_002485.4:c.480+236_480+237insGT , LRG_158t1:c.480+236_480+237insGT	NP_002476.2:n.480+236_480+237insGT
XM_011517044.1:c.456+236_456+237insGT	XP_011515346.1:n.456+236_456+237insGT
XM_011517045.1:c.234+236_234+237insGT	XP_011515347.1:n.234+236_234+237insGT
XM_011517046.1:c.480+236_480+237insGT	XP_011515348.1:n.480+236_480+237insGT
XR_928335.1:n.617+236_617+237insGT
XM_017013460.1:c.-489-70_-489-69insGT	XP_016868949.1:n.-489-70_-489-69insGT
XM_017013462.2:c.-296+236_-296+237insGT	XP_016868951.1:n.-296+236_-296+237insGT
XM_024447163.1:c.234+236_234+237insGT	XP_024302931.1:n.234+236_234+237insGT
XM_024447164.1:c.234+236_234+237insGT	XP_024302932.1:n.234+236_234+237insGT
XM_024447165.1:c.-489-70_-489-69insGT	XP_024302933.1:n.-489-70_-489-69insGT
NM_002485.5:c.480+236_480+237insGT MANE Select	NP_002476.2:n.480+236_480+237insGT
NM_001024688.3:c.234+236_234+237insGT	NP_001019859.1:n.234+236_234+237insGT