Canonical Allele Identifier: CA2687855249

Gene: NBN

Linked Data

• gnomAD v4: 8-89971066-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971066A>G , CM000670.2:g.89971066A>G	GRCh38
NC_000008.10:g.90983294A>G , CM000670.1:g.90983294A>G	GRCh37
NC_000008.9:g.91052470A>G	NCBI36
NG_008860.1:g.18606T>C , LRG_158:g.18606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2004+107T>C
ENST00000517337.2:c.456+107T>C	ENSP00000429971.2:n.456+107T>C
ENST00000523444.2:c.456+107T>C	ENSP00000428252.2:n.456+107T>C
ENST00000697292.1:c.702+107T>C	ENSP00000513229.1:n.702+107T>C
ENST00000697293.1:c.702+107T>C	ENSP00000513230.1:n.702+107T>C
ENST00000697294.1:c.*313+107T>C	ENSP00000513231.1:n.*313+107T>C
ENST00000697295.1:c.*11+107T>C	ENSP00000513232.1:n.*11+107T>C
ENST00000697296.1:c.*370+107T>C	ENSP00000513233.1:n.*370+107T>C
ENST00000697297.1:n.2487+107T>C
ENST00000697298.1:c.456+107T>C	ENSP00000513234.1:n.456+107T>C
ENST00000697299.1:c.456+107T>C	ENSP00000513235.1:n.456+107T>C
ENST00000697300.1:c.*306+107T>C	ENSP00000513236.1:n.*306+107T>C
ENST00000697301.1:c.*223+107T>C	ENSP00000513237.1:n.*223+107T>C
ENST00000697302.1:c.*223+107T>C	ENSP00000513238.1:n.*223+107T>C
ENST00000697303.1:c.*306+107T>C	ENSP00000513239.1:n.*306+107T>C
ENST00000697304.1:c.585-6559T>C	ENSP00000513240.1:n.585-6559T>C
ENST00000697306.1:c.480+9668T>C	ENSP00000513241.1:n.480+9668T>C
ENST00000697307.1:c.702+107T>C	ENSP00000513242.1:n.702+107T>C
ENST00000697308.1:c.702+107T>C	ENSP00000513243.1:n.702+107T>C
ENST00000697309.1:c.702+107T>C	ENSP00000513244.1:n.702+107T>C
ENST00000697310.1:c.702+107T>C	ENSP00000513245.1:n.702+107T>C
ENST00000697311.1:c.702+107T>C	ENSP00000513246.1:n.702+107T>C
ENST00000697312.1:c.*100+107T>C	ENSP00000513247.1:n.*100+107T>C
ENST00000697313.1:n.2493+107T>C
ENST00000697314.1:n.2493+107T>C
ENST00000697315.1:c.702+107T>C	ENSP00000513248.1:n.702+107T>C
ENST00000697316.1:n.823+107T>C
ENST00000697317.1:n.812+107T>C
ENST00000697318.1:n.814+107T>C
ENST00000265433.8:c.702+107T>C MANE Select	ENSP00000265433.4:n.702+107T>C
ENST00000265433.7:c.702+107T>C	ENSP00000265433.3:n.702+107T>C
ENST00000396252.6:c.*575+107T>C	ENSP00000379551.2:n.*575+107T>C
ENST00000409330.5:c.456+107T>C	ENSP00000386924.1:n.456+107T>C
ENST00000517772.5:c.456+107T>C	ENSP00000428717.1:n.456+107T>C
ENST00000519426.5:c.438+107T>C	ENSP00000430983.1:n.438+107T>C
NM_001024688.2:c.456+107T>C	NP_001019859.1:n.456+107T>C
NM_002485.4:c.702+107T>C , LRG_158t1:c.702+107T>C	NP_002476.2:n.702+107T>C
XM_011517044.1:c.678+107T>C	XP_011515346.1:n.678+107T>C
XM_011517045.1:c.456+107T>C	XP_011515347.1:n.456+107T>C
XM_011517046.1:c.702+107T>C	XP_011515348.1:n.702+107T>C
XR_928335.1:n.839+107T>C
XM_017013460.1:c.-178+107T>C	XP_016868949.1:n.-178+107T>C
XM_017013462.2:c.-178+107T>C	XP_016868951.1:n.-178+107T>C
XM_024447163.1:c.456+107T>C	XP_024302931.1:n.456+107T>C
XM_024447164.1:c.456+107T>C	XP_024302932.1:n.456+107T>C
XM_024447165.1:c.-178+107T>C	XP_024302933.1:n.-178+107T>C
NM_002485.5:c.702+107T>C MANE Select	NP_002476.2:n.702+107T>C
NM_001024688.3:c.456+107T>C	NP_001019859.1:n.456+107T>C