Canonical Allele Identifier: CA1801507205

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971173_89971177delinsCTGTT , CM000670.2:g.89971173_89971177delinsCTGTT	GRCh38
NC_000008.10:g.90983401_90983405delinsCTGTT , CM000670.1:g.90983401_90983405delinsCTGTT	GRCh37
NC_000008.9:g.91052577_91052581delinsCTGTT	NCBI36
NG_008860.1:g.18495_18499delinsAACAG , LRG_158:g.18495_18499delinsAACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2000_2004delinsAACAG
ENST00000517337.2:c.452_456delinsAACAG	ENSP00000429971.2:p.Lys151=
ENST00000523444.2:c.452_456delinsAACAG	ENSP00000428252.2:p.Lys151=
ENST00000697292.1:c.698_702delinsAACAG	ENSP00000513229.1:p.Lys233=
ENST00000697293.1:c.698_702delinsAACAG	ENSP00000513230.1:p.Lys233=
ENST00000697294.1:c.*309_*313delinsAACAG	ENSP00000513231.1:n.*309_*313delinsAACAG
ENST00000697295.1:c.*7_*11delinsAACAG	ENSP00000513232.1:n.*7_*11delinsAACAG
ENST00000697296.1:c.*366_*370delinsAACAG	ENSP00000513233.1:n.*366_*370delinsAACAG
ENST00000697297.1:n.2483_2487delinsAACAG
ENST00000697298.1:c.452_456delinsAACAG	ENSP00000513234.1:p.Lys151=
ENST00000697299.1:c.452_456delinsAACAG	ENSP00000513235.1:p.Lys151=
ENST00000697300.1:c.*302_*306delinsAACAG	ENSP00000513236.1:n.*302_*306delinsAACAG
ENST00000697301.1:c.*219_*223delinsAACAG	ENSP00000513237.1:n.*219_*223delinsAACAG
ENST00000697302.1:c.*219_*223delinsAACAG	ENSP00000513238.1:n.*219_*223delinsAACAG
ENST00000697303.1:c.*302_*306delinsAACAG	ENSP00000513239.1:n.*302_*306delinsAACAG
ENST00000697304.1:c.585-6670_585-6666delinsAACAG	ENSP00000513240.1:n.585-6670_585-6666deli...
ENST00000697306.1:c.480+9557_480+9561delinsAACAG	ENSP00000513241.1:n.480+9557_480+9561deli...
ENST00000697307.1:c.698_702delinsAACAG	ENSP00000513242.1:p.Lys233=
ENST00000697308.1:c.698_702delinsAACAG	ENSP00000513243.1:p.Lys233=
ENST00000697309.1:c.698_702delinsAACAG	ENSP00000513244.1:p.Lys233=
ENST00000697310.1:c.698_702delinsAACAG	ENSP00000513245.1:p.Lys233=
ENST00000697311.1:c.698_702delinsAACAG	ENSP00000513246.1:p.Lys233=
ENST00000697312.1:c.*96_*100delinsAACAG	ENSP00000513247.1:n.*96_*100delinsAACAG
ENST00000697313.1:n.2489_2493delinsAACAG
ENST00000697314.1:n.2489_2493delinsAACAG
ENST00000697315.1:c.698_702delinsAACAG	ENSP00000513248.1:p.Lys233=
ENST00000697316.1:n.819_823delinsAACAG
ENST00000697317.1:n.808_812delinsAACAG
ENST00000697318.1:n.810_814delinsAACAG
ENST00000265433.8:c.698_702delinsAACAG MANE Select	ENSP00000265433.4:p.Lys233=
ENST00000265433.7:c.698_702delinsAACAG	ENSP00000265433.3:p.Lys233=
ENST00000396252.6:c.*571_*575delinsAACAG	ENSP00000379551.2:n.*571_*575delinsAACAG
ENST00000409330.5:c.452_456delinsAACAG	ENSP00000386924.1:p.Lys151=
ENST00000517772.5:c.452_456delinsAACAG	ENSP00000428717.1:p.Lys151=
ENST00000519426.5:c.434_438delinsAACAG	ENSP00000430983.1:p.Lys145=
NM_001024688.2:c.452_456delinsAACAG	NP_001019859.1:p.Lys151=
NM_002485.4:c.698_702delinsAACAG , LRG_158t1:c.698_702delinsAACAG	NP_002476.2:p.Lys233=
XM_011517044.1:c.674_678delinsAACAG	XP_011515346.1:p.Lys225=
XM_011517045.1:c.452_456delinsAACAG	XP_011515347.1:p.Lys151=
XM_011517046.1:c.698_702delinsAACAG	XP_011515348.1:p.Lys233=
XR_928335.1:n.835_839delinsAACAG
XM_017013460.1:c.-182_-178delinsAACAG	XP_016868949.1:n.-182_-178delinsAACAG
XM_017013462.2:c.-182_-178delinsAACAG	XP_016868951.1:n.-182_-178delinsAACAG
XM_024447163.1:c.452_456delinsAACAG	XP_024302931.1:p.Lys151=
XM_024447164.1:c.452_456delinsAACAG	XP_024302932.1:p.Lys151=
XM_024447165.1:c.-182_-178delinsAACAG	XP_024302933.1:n.-182_-178delinsAACAG
NM_002485.5:c.698_702delinsAACAG MANE Select	NP_002476.2:p.Lys233=
NM_001024688.3:c.452_456delinsAACAG	NP_001019859.1:p.Lys151=