Canonical Allele Identifier: CA4802756

Gene: NBN

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955279A>G , CM000670.2:g.89955279A>G	GRCh38
NC_000008.10:g.90967507A>G , CM000670.1:g.90967507A>G	GRCh37
NC_000008.9:g.91036683A>G	NCBI36
NG_008860.1:g.34393T>C , LRG_158:g.34393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2699+4T>C
ENST00000517337.2:c.1151+4T>C	ENSP00000429971.2:n.1151+4T>C
ENST00000523444.2:c.1151+4T>C	ENSP00000428252.2:n.1151+4T>C
ENST00000697292.1:c.1397+4T>C	ENSP00000513229.1:n.1397+4T>C
ENST00000697293.1:c.1397+4T>C	ENSP00000513230.1:n.1397+4T>C
ENST00000697294.1:c.*1008+4T>C	ENSP00000513231.1:n.*1008+4T>C
ENST00000697295.1:c.*706+4T>C	ENSP00000513232.1:n.*706+4T>C
ENST00000697296.1:c.*1065+4T>C	ENSP00000513233.1:n.*1065+4T>C
ENST00000697297.1:n.3182+4T>C
ENST00000697298.1:c.1151+4T>C	ENSP00000513234.1:n.1151+4T>C
ENST00000697299.1:c.1151+4T>C	ENSP00000513235.1:n.1151+4T>C
ENST00000697300.1:c.*1001+4T>C	ENSP00000513236.1:n.*1001+4T>C
ENST00000697301.1:c.*918+4T>C	ENSP00000513237.1:n.*918+4T>C
ENST00000697302.1:c.*918+4T>C	ENSP00000513238.1:n.*918+4T>C
ENST00000697303.1:c.*1001+4T>C	ENSP00000513239.1:n.*1001+4T>C
ENST00000697304.1:c.1085+4T>C	ENSP00000513240.1:n.1085+4T>C
ENST00000697306.1:c.*397+4T>C	ENSP00000513241.1:n.*397+4T>C
ENST00000697307.1:c.1397+4T>C	ENSP00000513242.1:n.1397+4T>C
ENST00000697308.1:c.1397+4T>C	ENSP00000513243.1:n.1397+4T>C
ENST00000697309.1:c.1397+4T>C	ENSP00000513244.1:n.1397+4T>C
ENST00000697310.1:c.1397+4T>C	ENSP00000513245.1:n.1397+4T>C
ENST00000697311.1:c.1397+4T>C	ENSP00000513246.1:n.1397+4T>C
ENST00000697312.1:c.*795+4T>C	ENSP00000513247.1:n.*795+4T>C
ENST00000697313.1:n.2687+15085T>C
ENST00000697314.1:n.3188+4T>C
ENST00000697315.1:c.1397+4T>C	ENSP00000513248.1:n.1397+4T>C
ENST00000697316.1:n.1518+4T>C
ENST00000697317.1:n.1507+4T>C
ENST00000697318.1:n.1509+4T>C
ENST00000265433.8:c.1397+4T>C MANE Select	ENSP00000265433.4:n.1397+4T>C
ENST00000265433.7:c.1397+4T>C	ENSP00000265433.3:n.1397+4T>C
ENST00000396252.6:c.*1270+4T>C	ENSP00000379551.2:n.*1270+4T>C
ENST00000409330.5:c.1151+4T>C	ENSP00000386924.1:n.1151+4T>C
NM_001024688.2:c.1151+4T>C	NP_001019859.1:n.1151+4T>C
NM_002485.4:c.1397+4T>C , LRG_158t1:c.1397+4T>C	NP_002476.2:n.1397+4T>C
XM_011517044.1:c.1373+4T>C	XP_011515346.1:n.1373+4T>C
XM_011517045.1:c.1151+4T>C	XP_011515347.1:n.1151+4T>C
XM_011517046.1:c.1395+6T>C	XP_011515348.1:n.1395+6T>C
XR_928335.1:n.1533+5T>C
XM_017013460.1:c.518+4T>C	XP_016868949.1:n.518+4T>C
XM_017013462.2:c.518+4T>C	XP_016868951.1:n.518+4T>C
XM_024447163.1:c.1151+4T>C	XP_024302931.1:n.1151+4T>C
XM_024447164.1:c.1151+4T>C	XP_024302932.1:n.1151+4T>C
XM_024447165.1:c.518+4T>C	XP_024302933.1:n.518+4T>C
NM_002485.5:c.1397+4T>C MANE Select	NP_002476.2:n.1397+4T>C
NM_001024688.3:c.1151+4T>C	NP_001019859.1:n.1151+4T>C