Canonical Allele Identifier: CA1801507645

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971271_89971284delinsCATCAAGAGGTGGG , CM000670.2:g.89971271_89971284delinsCATCAAGAGGTGGG	GRCh38
NC_000008.10:g.90983499_90983512delinsCATCAAGAGGTGGG , CM000670.1:g.90983499_90983512delinsCATCAAGAGGTGGG	GRCh37
NC_000008.9:g.91052675_91052688delinsCATCAAGAGGTGGG	NCBI36
NG_008860.1:g.18388_18401delinsCCCACCTCTTGATG , LRG_158:g.18388_18401delinsCCCACCTCTTGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1893_1906delinsCCCACCTCTTGATG
ENST00000517337.2:c.345_358delinsCCCACCTCTTGATG	ENSP00000429971.2:p.Tyr115=
ENST00000523444.2:c.345_358delinsCCCACCTCTTGATG	ENSP00000428252.2:p.Tyr115=
ENST00000697292.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513229.1:p.Tyr197=
ENST00000697293.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513230.1:p.Tyr197=
ENST00000697294.1:c.*202_*215delinsCCCACCTCTTGATG	ENSP00000513231.1:n.*202_*215delinsCCCACCTCTTGATG
ENST00000697295.1:c.44_57delinsCCCACCTCTTGATG	ENSP00000513232.1:p.Thr15=
ENST00000697296.1:c.*259_*272delinsCCCACCTCTTGATG	ENSP00000513233.1:n.*259_*272delinsCCCACCTCTTGATG
ENST00000697297.1:n.2376_2389delinsCCCACCTCTTGATG
ENST00000697298.1:c.345_358delinsCCCACCTCTTGATG	ENSP00000513234.1:p.Tyr115=
ENST00000697299.1:c.345_358delinsCCCACCTCTTGATG	ENSP00000513235.1:p.Tyr115=
ENST00000697300.1:c.*195_*208delinsCCCACCTCTTGATG	ENSP00000513236.1:n.*195_*208delinsCCCACCTCTTGATG
ENST00000697301.1:c.*112_*125delinsCCCACCTCTTGATG	ENSP00000513237.1:n.*112_*125delinsCCCACCTCTTGATG
ENST00000697302.1:c.*112_*125delinsCCCACCTCTTGATG	ENSP00000513238.1:n.*112_*125delinsCCCACCTCTTGATG
ENST00000697303.1:c.*195_*208delinsCCCACCTCTTGATG	ENSP00000513239.1:n.*195_*208delinsCCCACCTCTTGATG
ENST00000697304.1:c.585-6777_585-6764delinsCCCACCTCTTGATG	ENSP00000513240.1:n.585-6777_585-6764delinsCCCACCTCTTGATG
ENST00000697306.1:c.480+9450_480+9463delinsCCCACCTCTTGATG	ENSP00000513241.1:n.480+9450_480+9463delinsCCCACCTCTTGATG
ENST00000697307.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513242.1:p.Tyr197=
ENST00000697308.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513243.1:p.Tyr197=
ENST00000697309.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513244.1:p.Tyr197=
ENST00000697310.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513245.1:p.Tyr197=
ENST00000697311.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513246.1:p.Tyr197=
ENST00000697312.1:c.487_*2delinsCCCACCTCTTGATG	ENSP00000513247.1:n.[c.487_*2delinsCCCACCTCTTGATG;Pro163=]
ENST00000697313.1:n.2382_2395delinsCCCACCTCTTGATG
ENST00000697314.1:n.2382_2395delinsCCCACCTCTTGATG
ENST00000697315.1:c.591_604delinsCCCACCTCTTGATG	ENSP00000513248.1:p.Tyr197=
ENST00000697316.1:n.712_725delinsCCCACCTCTTGATG
ENST00000697317.1:n.701_714delinsCCCACCTCTTGATG
ENST00000697318.1:n.703_716delinsCCCACCTCTTGATG
ENST00000265433.8:c.591_604delinsCCCACCTCTTGATG MANE Select	ENSP00000265433.4:p.Tyr197=
ENST00000265433.7:c.591_604delinsCCCACCTCTTGATG	ENSP00000265433.3:p.Tyr197=
ENST00000396252.6:c.*464_*477delinsCCCACCTCTTGATG	ENSP00000379551.2:n.*464_*477delinsCCCACCTCTTGATG
ENST00000409330.5:c.345_358delinsCCCACCTCTTGATG	ENSP00000386924.1:p.Tyr115=
ENST00000517772.5:c.345_358delinsCCCACCTCTTGATG	ENSP00000428717.1:p.Tyr115=
ENST00000519426.5:c.327_340delinsCCCACCTCTTGATG	ENSP00000430983.1:p.Tyr109=
NM_001024688.2:c.345_358delinsCCCACCTCTTGATG	NP_001019859.1:p.Tyr115=
NM_002485.4:c.591_604delinsCCCACCTCTTGATG , LRG_158t1:c.591_604delinsCCCACCTCTTGATG	NP_002476.2:p.Tyr197=
XM_011517044.1:c.567_580delinsCCCACCTCTTGATG	XP_011515346.1:p.Tyr189=
XM_011517045.1:c.345_358delinsCCCACCTCTTGATG	XP_011515347.1:p.Tyr115=
XM_011517046.1:c.591_604delinsCCCACCTCTTGATG	XP_011515348.1:p.Tyr197=
XR_928335.1:n.728_741delinsCCCACCTCTTGATG
XM_017013460.1:c.-289_-276delinsCCCACCTCTTGATG	XP_016868949.1:n.-289_-276delinsCCCACCTCTTGATG
XM_017013462.2:c.-289_-276delinsCCCACCTCTTGATG	XP_016868951.1:n.-289_-276delinsCCCACCTCTTGATG
XM_024447163.1:c.345_358delinsCCCACCTCTTGATG	XP_024302931.1:p.Tyr115=
XM_024447164.1:c.345_358delinsCCCACCTCTTGATG	XP_024302932.1:p.Tyr115=
XM_024447165.1:c.-289_-276delinsCCCACCTCTTGATG	XP_024302933.1:n.-289_-276delinsCCCACCTCTTGATG
NM_002485.5:c.591_604delinsCCCACCTCTTGATG MANE Select	NP_002476.2:p.Tyr197=
NM_001024688.3:c.345_358delinsCCCACCTCTTGATG	NP_001019859.1:p.Tyr115=