Canonical Allele Identifier: CA2687853940

Gene: NBN

Linked Data

• gnomAD v4: 8-89946342-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946342A>C , CM000670.2:g.89946342A>C	GRCh38
NC_000008.10:g.90958570A>C , CM000670.1:g.90958570A>C	GRCh37
NC_000008.9:g.91027746A>C	NCBI36
NG_008860.1:g.43330T>G , LRG_158:g.43330T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-47T>G
ENST00000517337.2:c.1669-47T>G	ENSP00000429971.2:n.1669-47T>G
ENST00000523444.2:c.1669-47T>G	ENSP00000428252.2:n.1669-47T>G
ENST00000697292.1:c.1915-47T>G	ENSP00000513229.1:n.1915-47T>G
ENST00000697293.1:c.1915-47T>G	ENSP00000513230.1:n.1915-47T>G
ENST00000697294.1:c.*1526-47T>G	ENSP00000513231.1:n.*1526-47T>G
ENST00000697295.1:c.*1224-47T>G	ENSP00000513232.1:n.*1224-47T>G
ENST00000697296.1:c.*1583-47T>G	ENSP00000513233.1:n.*1583-47T>G
ENST00000697297.1:n.3700-47T>G
ENST00000697298.1:c.1669-47T>G	ENSP00000513234.1:n.1669-47T>G
ENST00000697299.1:c.1669-47T>G	ENSP00000513235.1:n.1669-47T>G
ENST00000697300.1:c.*1519-47T>G	ENSP00000513236.1:n.*1519-47T>G
ENST00000697301.1:c.*1436-47T>G	ENSP00000513237.1:n.*1436-47T>G
ENST00000697302.1:c.*1436-47T>G	ENSP00000513238.1:n.*1436-47T>G
ENST00000697303.1:c.*1519-47T>G	ENSP00000513239.1:n.*1519-47T>G
ENST00000697304.1:c.1603-47T>G	ENSP00000513240.1:n.1603-47T>G
ENST00000697306.1:c.*2419T>G	ENSP00000513241.1:n.*2419T>G
ENST00000697307.1:c.1846-2976T>G	ENSP00000513242.1:n.1846-2976T>G
ENST00000697308.1:c.1846-47T>G	ENSP00000513243.1:n.1846-47T>G
ENST00000697309.1:c.1915-47T>G	ENSP00000513244.1:n.1915-47T>G
ENST00000697310.1:c.1915-47T>G	ENSP00000513245.1:n.1915-47T>G
ENST00000697311.1:c.1915-47T>G	ENSP00000513246.1:n.1915-47T>G
ENST00000697312.1:c.*1313-47T>G	ENSP00000513247.1:n.*1313-47T>G
ENST00000697313.1:n.2688-10730T>G
ENST00000697314.1:n.3636+6902T>G
ENST00000697315.1:c.1915-47T>G	ENSP00000513248.1:n.1915-47T>G
ENST00000697316.1:n.2036-47T>G
ENST00000697317.1:n.2006-47T>G
ENST00000265433.8:c.1915-47T>G MANE Select	ENSP00000265433.4:n.1915-47T>G
ENST00000265433.7:c.1915-47T>G	ENSP00000265433.3:n.1915-47T>G
ENST00000396252.6:c.*1788-47T>G	ENSP00000379551.2:n.*1788-47T>G
ENST00000409330.5:c.1669-47T>G	ENSP00000386924.1:n.1669-47T>G
ENST00000520325.1:n.284T>G
ENST00000613033.1:c.180+1482T>G	ENSP00000484487.1:n.180+1482T>G
NM_001024688.2:c.1669-47T>G	NP_001019859.1:n.1669-47T>G
NM_002485.4:c.1915-47T>G , LRG_158t1:c.1915-47T>G	NP_002476.2:n.1915-47T>G
XM_011517044.1:c.1891-47T>G	XP_011515346.1:n.1891-47T>G
XM_011517045.1:c.1669-47T>G	XP_011515347.1:n.1669-47T>G
XR_928335.1:n.2054-47T>G
XM_017013460.1:c.1036-47T>G	XP_016868949.1:n.1036-47T>G
XM_017013462.2:c.1036-47T>G	XP_016868951.1:n.1036-47T>G
XM_024447163.1:c.1669-47T>G	XP_024302931.1:n.1669-47T>G
XM_024447164.1:c.1669-47T>G	XP_024302932.1:n.1669-47T>G
XM_024447165.1:c.1036-47T>G	XP_024302933.1:n.1036-47T>G
NM_002485.5:c.1915-47T>G MANE Select	NP_002476.2:n.1915-47T>G
NM_001024688.3:c.1669-47T>G	NP_001019859.1:n.1669-47T>G