Canonical Allele Identifier: CA2687856957
Gene: NBN HGNC NCBI

Linked Data

gnomAD v4: 8-89980897-T-TTTACTTCCAAACACTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89980897_89980898insTTACTTCCAAACACTCC , CM000670.2:g.89980897_89980898insTTACTTCCAAACACTCC GRCh38
NC_000008.10:g.90993125_90993126insTTACTTCCAAACACTCC , CM000670.1:g.90993125_90993126insTTACTTCCAAACACTCC GRCh37
NC_000008.9:g.91062301_91062302insTTACTTCCAAACACTCC NCBI36
NG_008860.1:g.8774_8775insGGAGTGTTTGGAAGTAA , LRG_158:g.8774_8775insGGAGTGTTTGGAAGTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000494804.2:n.1623-5_1623-4insGGAGTGTTTGGAAGTAA
ENST00000517337.2:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000429971.2:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000523444.2:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000428252.2:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000697292.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513229.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697293.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513230.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697294.1:c.321-46_321-45insGGAGTGTTTGGAAGTAA ENSP00000513231.1:n.321-46_321-45insGGAGTGTTTGGAAGTAA
ENST00000697295.1:c.37+3627_37+3628insGGAGTGTTTGGAAGTAA ENSP00000513232.1:n.37+3627_37+3628insGGAGTGTTTGGAAGTAA
ENST00000697296.1:c.172-5_172-4insGGAGTGTTTGGAAGTAA ENSP00000513233.1:n.172-5_172-4insGGAGTGTTTGGAAGTAA
ENST00000697297.1:n.2101_2102insGGAGTGTTTGGAAGTAA
ENST00000697298.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000513234.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000697299.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000513235.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000697300.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000513236.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000697301.1:c.75-46_75-45insGGAGTGTTTGGAAGTAA ENSP00000513237.1:n.75-46_75-45insGGAGTGTTTGGAAGTAA
ENST00000697302.1:c.321-46_321-45insGGAGTGTTTGGAAGTAA ENSP00000513238.1:n.321-46_321-45insGGAGTGTTTGGAAGTAA
ENST00000697303.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513239.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697304.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513240.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697306.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513241.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697307.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513242.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697308.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513243.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697309.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513244.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697310.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513245.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697311.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513246.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697312.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513247.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697313.1:n.2107_2108insGGAGTGTTTGGAAGTAA
ENST00000697314.1:n.2107_2108insGGAGTGTTTGGAAGTAA
ENST00000697315.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000513248.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000697316.1:n.442-5_442-4insGGAGTGTTTGGAAGTAA
ENST00000697317.1:n.431-5_431-4insGGAGTGTTTGGAAGTAA
ENST00000697318.1:n.433-5_433-4insGGAGTGTTTGGAAGTAA
ENST00000265433.8:c.321-5_321-4insGGAGTGTTTGGAAGTAA MANE Select ENSP00000265433.4:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000265433.7:c.321-5_321-4insGGAGTGTTTGGAAGTAA ENSP00000265433.3:n.321-5_321-4insGGAGTGTTTGGAAGTAA
ENST00000396252.6:c.*194-5_*194-4insGGAGTGTTTGGAAGTAA ENSP00000379551.2:n.*194-5_*194-4insGGAGTGTTTGGAAGTAA
ENST00000409330.5:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000386924.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000517337.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000429971.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000517772.5:c.75-5_75-4insGGAGTGTTTGGAAGTAA ENSP00000428717.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
ENST00000519426.5:c.320+477_320+478insGGAGTGTTTGGAAGTAA ENSP00000430983.1:n.320+477_320+478insGGAGTGTTTGGAAGTAA
ENST00000523444.1:c.*194-46_*194-45insGGAGTGTTTGGAAGTAA ENSP00000428252.1:n.*194-46_*194-45insGGAGTGTTTGGAAGTAA
NM_001024688.2:c.75-5_75-4insGGAGTGTTTGGAAGTAA NP_001019859.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
NM_002485.4:c.321-5_321-4insGGAGTGTTTGGAAGTAA , LRG_158t1:c.321-5_321-4insGGAGTGTTTGGAAGTAA NP_002476.2:n.321-5_321-4insGGAGTGTTTGGAAGTAA
XM_011517044.1:c.297-5_297-4insGGAGTGTTTGGAAGTAA XP_011515346.1:n.297-5_297-4insGGAGTGTTTGGAAGTAA
XM_011517045.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA XP_011515347.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
XM_011517046.1:c.321-5_321-4insGGAGTGTTTGGAAGTAA XP_011515348.1:n.321-5_321-4insGGAGTGTTTGGAAGTAA
XR_928335.1:n.458-5_458-4insGGAGTGTTTGGAAGTAA
XM_017013460.1:c.-649-5_-649-4insGGAGTGTTTGGAAGTAA XP_016868949.1:n.-649-5_-649-4insGGAGTGTTTGGAAGTAA
XM_017013462.2:c.-455-5_-455-4insGGAGTGTTTGGAAGTAA XP_016868951.1:n.-455-5_-455-4insGGAGTGTTTGGAAGTAA
XM_024447163.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA XP_024302931.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
XM_024447164.1:c.75-5_75-4insGGAGTGTTTGGAAGTAA XP_024302932.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
XM_024447165.1:c.-649-5_-649-4insGGAGTGTTTGGAAGTAA XP_024302933.1:n.-649-5_-649-4insGGAGTGTTTGGAAGTAA
NM_002485.5:c.321-5_321-4insGGAGTGTTTGGAAGTAA MANE Select NP_002476.2:n.321-5_321-4insGGAGTGTTTGGAAGTAA
NM_001024688.3:c.75-5_75-4insGGAGTGTTTGGAAGTAA NP_001019859.1:n.75-5_75-4insGGAGTGTTTGGAAGTAA
Search 100 bp 5'
Search 100 bp 3'