Canonical Allele Identifier: CA2687853945

Gene: NBN

Linked Data

• gnomAD v4: 8-89946352-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946352_89946353insTT , CM000670.2:g.89946352_89946353insTT	GRCh38
NC_000008.10:g.90958580_90958581insTT , CM000670.1:g.90958580_90958581insTT	GRCh37
NC_000008.9:g.91027756_91027757insTT	NCBI36
NG_008860.1:g.43319_43320insAA , LRG_158:g.43319_43320insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3217-58_3217-57insAA
ENST00000517337.2:c.1669-58_1669-57insAA	ENSP00000429971.2:n.1669-58_1669-57insAA
ENST00000523444.2:c.1669-58_1669-57insAA	ENSP00000428252.2:n.1669-58_1669-57insAA
ENST00000697292.1:c.1915-58_1915-57insAA	ENSP00000513229.1:n.1915-58_1915-57insAA
ENST00000697293.1:c.1915-58_1915-57insAA	ENSP00000513230.1:n.1915-58_1915-57insAA
ENST00000697294.1:c.*1526-58_*1526-57insAA	ENSP00000513231.1:n.*1526-58_*1526-57insAA
ENST00000697295.1:c.*1224-58_*1224-57insAA	ENSP00000513232.1:n.*1224-58_*1224-57insAA
ENST00000697296.1:c.*1583-58_*1583-57insAA	ENSP00000513233.1:n.*1583-58_*1583-57insAA
ENST00000697297.1:n.3700-58_3700-57insAA
ENST00000697298.1:c.1669-58_1669-57insAA	ENSP00000513234.1:n.1669-58_1669-57insAA
ENST00000697299.1:c.1669-58_1669-57insAA	ENSP00000513235.1:n.1669-58_1669-57insAA
ENST00000697300.1:c.*1519-58_*1519-57insAA	ENSP00000513236.1:n.*1519-58_*1519-57insAA
ENST00000697301.1:c.*1436-58_*1436-57insAA	ENSP00000513237.1:n.*1436-58_*1436-57insAA
ENST00000697302.1:c.*1436-58_*1436-57insAA	ENSP00000513238.1:n.*1436-58_*1436-57insAA
ENST00000697303.1:c.*1519-58_*1519-57insAA	ENSP00000513239.1:n.*1519-58_*1519-57insAA
ENST00000697304.1:c.1603-58_1603-57insAA	ENSP00000513240.1:n.1603-58_1603-57insAA
ENST00000697306.1:c.*2408_*2409insAA	ENSP00000513241.1:n.*2408_*2409insAA
ENST00000697307.1:c.1846-2987_1846-2986insAA	ENSP00000513242.1:n.1846-2987_1846-2986insAA
ENST00000697308.1:c.1846-58_1846-57insAA	ENSP00000513243.1:n.1846-58_1846-57insAA
ENST00000697309.1:c.1915-58_1915-57insAA	ENSP00000513244.1:n.1915-58_1915-57insAA
ENST00000697310.1:c.1915-58_1915-57insAA	ENSP00000513245.1:n.1915-58_1915-57insAA
ENST00000697311.1:c.1915-58_1915-57insAA	ENSP00000513246.1:n.1915-58_1915-57insAA
ENST00000697312.1:c.*1313-58_*1313-57insAA	ENSP00000513247.1:n.*1313-58_*1313-57insAA
ENST00000697313.1:n.2688-10741_2688-10740insAA
ENST00000697314.1:n.3636+6891_3636+6892insAA
ENST00000697315.1:c.1915-58_1915-57insAA	ENSP00000513248.1:n.1915-58_1915-57insAA
ENST00000697316.1:n.2036-58_2036-57insAA
ENST00000697317.1:n.2006-58_2006-57insAA
ENST00000265433.8:c.1915-58_1915-57insAA MANE Select	ENSP00000265433.4:n.1915-58_1915-57insAA
ENST00000265433.7:c.1915-58_1915-57insAA	ENSP00000265433.3:n.1915-58_1915-57insAA
ENST00000396252.6:c.*1788-58_*1788-57insAA	ENSP00000379551.2:n.*1788-58_*1788-57insAA
ENST00000409330.5:c.1669-58_1669-57insAA	ENSP00000386924.1:n.1669-58_1669-57insAA
ENST00000520325.1:n.273_274insAA
ENST00000613033.1:c.180+1471_180+1472insAA	ENSP00000484487.1:n.180+1471_180+1472insAA
NM_001024688.2:c.1669-58_1669-57insAA	NP_001019859.1:n.1669-58_1669-57insAA
NM_002485.4:c.1915-58_1915-57insAA , LRG_158t1:c.1915-58_1915-57insAA	NP_002476.2:n.1915-58_1915-57insAA
XM_011517044.1:c.1891-58_1891-57insAA	XP_011515346.1:n.1891-58_1891-57insAA
XM_011517045.1:c.1669-58_1669-57insAA	XP_011515347.1:n.1669-58_1669-57insAA
XR_928335.1:n.2054-58_2054-57insAA
XM_017013460.1:c.1036-58_1036-57insAA	XP_016868949.1:n.1036-58_1036-57insAA
XM_017013462.2:c.1036-58_1036-57insAA	XP_016868951.1:n.1036-58_1036-57insAA
XM_024447163.1:c.1669-58_1669-57insAA	XP_024302931.1:n.1669-58_1669-57insAA
XM_024447164.1:c.1669-58_1669-57insAA	XP_024302932.1:n.1669-58_1669-57insAA
XM_024447165.1:c.1036-58_1036-57insAA	XP_024302933.1:n.1036-58_1036-57insAA
NM_002485.5:c.1915-58_1915-57insAA MANE Select	NP_002476.2:n.1915-58_1915-57insAA
NM_001024688.3:c.1669-58_1669-57insAA	NP_001019859.1:n.1669-58_1669-57insAA