Canonical Allele Identifier: CA2521393090

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980494_89980495insC , CM000670.2:g.89980494_89980495insC	GRCh38
NC_000008.10:g.90992722_90992723insC , CM000670.1:g.90992722_90992723insC	GRCh37
NC_000008.9:g.91061898_91061899insC	NCBI36
NG_008860.1:g.9177_9178insG , LRG_158:g.9177_9178insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1782+239_1782+240insG
ENST00000517337.2:c.234+239_234+240insG	ENSP00000429971.2:n.234+239_234+240insG
ENST00000523444.2:c.234+239_234+240insG	ENSP00000428252.2:n.234+239_234+240insG
ENST00000697292.1:c.480+239_480+240insG	ENSP00000513229.1:n.480+239_480+240insG
ENST00000697293.1:c.480+239_480+240insG	ENSP00000513230.1:n.480+239_480+240insG
ENST00000697294.1:c.*2-67_*2-66insG	ENSP00000513231.1:n.*2-67_*2-66insG
ENST00000697295.1:c.37+4030_37+4031insG	ENSP00000513232.1:n.37+4030_37+4031insG
ENST00000697296.1:c.*148+239_*148+240insG	ENSP00000513233.1:n.*148+239_*148+240insG
ENST00000697297.1:n.2265+239_2265+240insG
ENST00000697298.1:c.234+239_234+240insG	ENSP00000513234.1:n.234+239_234+240insG
ENST00000697299.1:c.234+239_234+240insG	ENSP00000513235.1:n.234+239_234+240insG
ENST00000697300.1:c.235-67_235-66insG	ENSP00000513236.1:n.235-67_235-66insG
ENST00000697301.1:c.*1+239_*1+240insG	ENSP00000513237.1:n.*1+239_*1+240insG
ENST00000697302.1:c.*1+239_*1+240insG	ENSP00000513238.1:n.*1+239_*1+240insG
ENST00000697303.1:c.481-67_481-66insG	ENSP00000513239.1:n.481-67_481-66insG
ENST00000697304.1:c.480+239_480+240insG	ENSP00000513240.1:n.480+239_480+240insG
ENST00000697306.1:c.480+239_480+240insG	ENSP00000513241.1:n.480+239_480+240insG
ENST00000697307.1:c.480+239_480+240insG	ENSP00000513242.1:n.480+239_480+240insG
ENST00000697308.1:c.480+239_480+240insG	ENSP00000513243.1:n.480+239_480+240insG
ENST00000697309.1:c.480+239_480+240insG	ENSP00000513244.1:n.480+239_480+240insG
ENST00000697310.1:c.480+239_480+240insG	ENSP00000513245.1:n.480+239_480+240insG
ENST00000697311.1:c.480+239_480+240insG	ENSP00000513246.1:n.480+239_480+240insG
ENST00000697312.1:c.480+239_480+240insG	ENSP00000513247.1:n.480+239_480+240insG
ENST00000697313.1:n.2271+239_2271+240insG
ENST00000697314.1:n.2271+239_2271+240insG
ENST00000697315.1:c.480+239_480+240insG	ENSP00000513248.1:n.480+239_480+240insG
ENST00000697316.1:n.601+239_601+240insG
ENST00000697317.1:n.590+239_590+240insG
ENST00000697318.1:n.592+239_592+240insG
ENST00000265433.8:c.480+239_480+240insG MANE Select	ENSP00000265433.4:n.480+239_480+240insG
ENST00000265433.7:c.480+239_480+240insG	ENSP00000265433.3:n.480+239_480+240insG
ENST00000396252.6:c.*353+239_*353+240insG	ENSP00000379551.2:n.*353+239_*353+240insG
ENST00000409330.5:c.234+239_234+240insG	ENSP00000386924.1:n.234+239_234+240insG
ENST00000517337.1:c.234+239_234+240insG	ENSP00000429971.1:n.234+239_234+240insG
ENST00000517772.5:c.234+239_234+240insG	ENSP00000428717.1:n.234+239_234+240insG
ENST00000519426.5:c.320+880_320+881insG	ENSP00000430983.1:n.320+880_320+881insG
ENST00000523444.1:c.*312+239_*312+240insG	ENSP00000428252.1:n.*312+239_*312+240insG
NM_001024688.2:c.234+239_234+240insG	NP_001019859.1:n.234+239_234+240insG
NM_002485.4:c.480+239_480+240insG , LRG_158t1:c.480+239_480+240insG	NP_002476.2:n.480+239_480+240insG
XM_011517044.1:c.456+239_456+240insG	XP_011515346.1:n.456+239_456+240insG
XM_011517045.1:c.234+239_234+240insG	XP_011515347.1:n.234+239_234+240insG
XM_011517046.1:c.480+239_480+240insG	XP_011515348.1:n.480+239_480+240insG
XR_928335.1:n.617+239_617+240insG
XM_017013460.1:c.-489-67_-489-66insG	XP_016868949.1:n.-489-67_-489-66insG
XM_017013462.2:c.-296+239_-296+240insG	XP_016868951.1:n.-296+239_-296+240insG
XM_024447163.1:c.234+239_234+240insG	XP_024302931.1:n.234+239_234+240insG
XM_024447164.1:c.234+239_234+240insG	XP_024302932.1:n.234+239_234+240insG
XM_024447165.1:c.-489-67_-489-66insG	XP_024302933.1:n.-489-67_-489-66insG
NM_002485.5:c.480+239_480+240insG MANE Select	NP_002476.2:n.480+239_480+240insG
NM_001024688.3:c.234+239_234+240insG	NP_001019859.1:n.234+239_234+240insG