Canonical Allele Identifier: CA2554767466

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970596_89970597insA , CM000670.2:g.89970596_89970597insA	GRCh38
NC_000008.10:g.90982824_90982825insA , CM000670.1:g.90982824_90982825insA	GRCh37
NC_000008.9:g.91052000_91052001insA	NCBI36
NG_008860.1:g.19075_19076insT , LRG_158:g.19075_19076insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2005-40_2005-39insT
ENST00000517337.2:c.457-40_457-39insT	ENSP00000429971.2:n.457-40_457-39insT
ENST00000523444.2:c.457-40_457-39insT	ENSP00000428252.2:n.457-40_457-39insT
ENST00000697292.1:c.703-40_703-39insT	ENSP00000513229.1:n.703-40_703-39insT
ENST00000697293.1:c.703-40_703-39insT	ENSP00000513230.1:n.703-40_703-39insT
ENST00000697294.1:c.*314-40_*314-39insT	ENSP00000513231.1:n.*314-40_*314-39insT
ENST00000697295.1:c.*12-40_*12-39insT	ENSP00000513232.1:n.*12-40_*12-39insT
ENST00000697296.1:c.*371-40_*371-39insT	ENSP00000513233.1:n.*371-40_*371-39insT
ENST00000697297.1:n.2488-40_2488-39insT
ENST00000697298.1:c.457-40_457-39insT	ENSP00000513234.1:n.457-40_457-39insT
ENST00000697299.1:c.457-40_457-39insT	ENSP00000513235.1:n.457-40_457-39insT
ENST00000697300.1:c.*307-40_*307-39insT	ENSP00000513236.1:n.*307-40_*307-39insT
ENST00000697301.1:c.*224-40_*224-39insT	ENSP00000513237.1:n.*224-40_*224-39insT
ENST00000697302.1:c.*224-40_*224-39insT	ENSP00000513238.1:n.*224-40_*224-39insT
ENST00000697303.1:c.*307-40_*307-39insT	ENSP00000513239.1:n.*307-40_*307-39insT
ENST00000697304.1:c.585-6090_585-6089insT	ENSP00000513240.1:n.585-6090_585-6089insT
ENST00000697306.1:c.480+10137_480+10138insT	ENSP00000513241.1:n.480+10137_480+10138insT
ENST00000697307.1:c.703-40_703-39insT	ENSP00000513242.1:n.703-40_703-39insT
ENST00000697308.1:c.703-40_703-39insT	ENSP00000513243.1:n.703-40_703-39insT
ENST00000697309.1:c.703-40_703-39insT	ENSP00000513244.1:n.703-40_703-39insT
ENST00000697310.1:c.703-40_703-39insT	ENSP00000513245.1:n.703-40_703-39insT
ENST00000697311.1:c.703-40_703-39insT	ENSP00000513246.1:n.703-40_703-39insT
ENST00000697312.1:c.*101-40_*101-39insT	ENSP00000513247.1:n.*101-40_*101-39insT
ENST00000697313.1:n.2494-40_2494-39insT
ENST00000697314.1:n.2494-40_2494-39insT
ENST00000697315.1:c.703-40_703-39insT	ENSP00000513248.1:n.703-40_703-39insT
ENST00000697316.1:n.824-40_824-39insT
ENST00000697317.1:n.813-40_813-39insT
ENST00000697318.1:n.815-40_815-39insT
ENST00000265433.8:c.703-40_703-39insT MANE Select	ENSP00000265433.4:n.703-40_703-39insT
ENST00000265433.7:c.703-40_703-39insT	ENSP00000265433.3:n.703-40_703-39insT
ENST00000396252.6:c.*576-40_*576-39insT	ENSP00000379551.2:n.*576-40_*576-39insT
ENST00000409330.5:c.457-40_457-39insT	ENSP00000386924.1:n.457-40_457-39insT
ENST00000517772.5:c.457-40_457-39insT	ENSP00000428717.1:n.457-40_457-39insT
ENST00000519426.5:c.439-40_439-39insT	ENSP00000430983.1:n.439-40_439-39insT
NM_001024688.2:c.457-40_457-39insT	NP_001019859.1:n.457-40_457-39insT
NM_002485.4:c.703-40_703-39insT , LRG_158t1:c.703-40_703-39insT	NP_002476.2:n.703-40_703-39insT
XM_011517044.1:c.679-40_679-39insT	XP_011515346.1:n.679-40_679-39insT
XM_011517045.1:c.457-40_457-39insT	XP_011515347.1:n.457-40_457-39insT
XM_011517046.1:c.703-40_703-39insT	XP_011515348.1:n.703-40_703-39insT
XR_928335.1:n.840-40_840-39insT
XM_017013460.1:c.-177-40_-177-39insT	XP_016868949.1:n.-177-40_-177-39insT
XM_017013462.2:c.-177-40_-177-39insT	XP_016868951.1:n.-177-40_-177-39insT
XM_024447163.1:c.457-40_457-39insT	XP_024302931.1:n.457-40_457-39insT
XM_024447164.1:c.457-40_457-39insT	XP_024302932.1:n.457-40_457-39insT
XM_024447165.1:c.-177-40_-177-39insT	XP_024302933.1:n.-177-40_-177-39insT
NM_002485.5:c.703-40_703-39insT MANE Select	NP_002476.2:n.703-40_703-39insT
NM_001024688.3:c.457-40_457-39insT	NP_001019859.1:n.457-40_457-39insT