Canonical Allele Identifier: CA2687854470

Gene: NBN

Linked Data

• gnomAD v4: 8-89953748-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953748C>A , CM000670.2:g.89953748C>A	GRCh38
NC_000008.10:g.90965976C>A , CM000670.1:g.90965976C>A	GRCh37
NC_000008.9:g.91035152C>A	NCBI36
NG_008860.1:g.35924G>T , LRG_158:g.35924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2700-57G>T
ENST00000517337.2:c.1152-57G>T	ENSP00000429971.2:n.1152-57G>T
ENST00000523444.2:c.1152-57G>T	ENSP00000428252.2:n.1152-57G>T
ENST00000697292.1:c.1398-57G>T	ENSP00000513229.1:n.1398-57G>T
ENST00000697293.1:c.1398-57G>T	ENSP00000513230.1:n.1398-57G>T
ENST00000697294.1:c.*1009-57G>T	ENSP00000513231.1:n.*1009-57G>T
ENST00000697295.1:c.*707-57G>T	ENSP00000513232.1:n.*707-57G>T
ENST00000697296.1:c.*1066-57G>T	ENSP00000513233.1:n.*1066-57G>T
ENST00000697297.1:n.3183-57G>T
ENST00000697298.1:c.1152-57G>T	ENSP00000513234.1:n.1152-57G>T
ENST00000697299.1:c.1152-57G>T	ENSP00000513235.1:n.1152-57G>T
ENST00000697300.1:c.*1002-57G>T	ENSP00000513236.1:n.*1002-57G>T
ENST00000697301.1:c.*919-57G>T	ENSP00000513237.1:n.*919-57G>T
ENST00000697302.1:c.*919-57G>T	ENSP00000513238.1:n.*919-57G>T
ENST00000697303.1:c.*1002-57G>T	ENSP00000513239.1:n.*1002-57G>T
ENST00000697304.1:c.1086-57G>T	ENSP00000513240.1:n.1086-57G>T
ENST00000697306.1:c.*398-57G>T	ENSP00000513241.1:n.*398-57G>T
ENST00000697307.1:c.1398-57G>T	ENSP00000513242.1:n.1398-57G>T
ENST00000697308.1:c.1398-57G>T	ENSP00000513243.1:n.1398-57G>T
ENST00000697309.1:c.1398-57G>T	ENSP00000513244.1:n.1398-57G>T
ENST00000697310.1:c.1398-57G>T	ENSP00000513245.1:n.1398-57G>T
ENST00000697311.1:c.1398-57G>T	ENSP00000513246.1:n.1398-57G>T
ENST00000697312.1:c.*796-57G>T	ENSP00000513247.1:n.*796-57G>T
ENST00000697313.1:n.2687+16616G>T
ENST00000697314.1:n.3189-57G>T
ENST00000697315.1:c.1398-57G>T	ENSP00000513248.1:n.1398-57G>T
ENST00000697316.1:n.1519-57G>T
ENST00000697317.1:n.1508-57G>T
ENST00000697318.1:n.1510-57G>T
ENST00000265433.8:c.1398-57G>T MANE Select	ENSP00000265433.4:n.1398-57G>T
ENST00000265433.7:c.1398-57G>T	ENSP00000265433.3:n.1398-57G>T
ENST00000396252.6:c.*1271-57G>T	ENSP00000379551.2:n.*1271-57G>T
ENST00000409330.5:c.1152-57G>T	ENSP00000386924.1:n.1152-57G>T
NM_001024688.2:c.1152-57G>T	NP_001019859.1:n.1152-57G>T
NM_002485.4:c.1398-57G>T , LRG_158t1:c.1398-57G>T	NP_002476.2:n.1398-57G>T
XM_011517044.1:c.1374-57G>T	XP_011515346.1:n.1374-57G>T
XM_011517045.1:c.1152-57G>T	XP_011515347.1:n.1152-57G>T
XM_011517046.1:c.1396-54G>T	XP_011515348.1:n.1396-54G>T
XR_928335.1:n.1534-54G>T
XM_017013460.1:c.519-57G>T	XP_016868949.1:n.519-57G>T
XM_017013462.2:c.519-57G>T	XP_016868951.1:n.519-57G>T
XM_024447163.1:c.1152-57G>T	XP_024302931.1:n.1152-57G>T
XM_024447164.1:c.1152-57G>T	XP_024302932.1:n.1152-57G>T
XM_024447165.1:c.519-57G>T	XP_024302933.1:n.519-57G>T
NM_002485.5:c.1398-57G>T MANE Select	NP_002476.2:n.1398-57G>T
NM_001024688.3:c.1152-57G>T	NP_001019859.1:n.1152-57G>T