Canonical Allele Identifier: CA2580079073

Gene: NBN

Linked Data

• ClinVar Variation Id: 1773865
• ClinVar RCV Id: RCV002389782

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953593_89953594delinsAT , CM000670.2:g.89953593_89953594delinsAT	GRCh38
NC_000008.10:g.90965821_90965822delinsAT , CM000670.1:g.90965821_90965822delinsAT	GRCh37
NC_000008.9:g.91034997_91034998delinsAT	NCBI36
NG_008860.1:g.36078_36079delinsAT , LRG_158:g.36078_36079delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2797_2798delinsAT
ENST00000517337.2:c.1249_1250delinsAT	ENSP00000429971.2:p.Ser417Ile
ENST00000523444.2:c.1249_1250delinsAT	ENSP00000428252.2:p.Ser417Ile
ENST00000697292.1:c.1495_1496delinsAT	ENSP00000513229.1:p.Ser499Ile
ENST00000697293.1:c.1495_1496delinsAT	ENSP00000513230.1:p.Ser499Ile
ENST00000697294.1:c.*1106_*1107delinsAT	ENSP00000513231.1:n.*1106_*1107delinsAT
ENST00000697295.1:c.*804_*805delinsAT	ENSP00000513232.1:n.*804_*805delinsAT
ENST00000697296.1:c.*1163_*1164delinsAT	ENSP00000513233.1:n.*1163_*1164delinsAT
ENST00000697297.1:n.3280_3281delinsAT
ENST00000697298.1:c.1249_1250delinsAT	ENSP00000513234.1:p.Ser417Ile
ENST00000697299.1:c.1249_1250delinsAT	ENSP00000513235.1:p.Ser417Ile
ENST00000697300.1:c.*1099_*1100delinsAT	ENSP00000513236.1:n.*1099_*1100delinsAT
ENST00000697301.1:c.*1016_*1017delinsAT	ENSP00000513237.1:n.*1016_*1017delinsAT
ENST00000697302.1:c.*1016_*1017delinsAT	ENSP00000513238.1:n.*1016_*1017delinsAT
ENST00000697303.1:c.*1099_*1100delinsAT	ENSP00000513239.1:n.*1099_*1100delinsAT
ENST00000697304.1:c.1183_1184delinsAT	ENSP00000513240.1:p.Ser395Ile
ENST00000697306.1:c.*495_*496delinsAT	ENSP00000513241.1:n.*495_*496delinsAT
ENST00000697307.1:c.1495_1496delinsAT	ENSP00000513242.1:p.Ser499Ile
ENST00000697308.1:c.1495_1496delinsAT	ENSP00000513243.1:p.Ser499Ile
ENST00000697309.1:c.1495_1496delinsAT	ENSP00000513244.1:p.Ser499Ile
ENST00000697310.1:c.1495_1496delinsAT	ENSP00000513245.1:p.Ser499Ile
ENST00000697311.1:c.1495_1496delinsAT	ENSP00000513246.1:p.Ser499Ile
ENST00000697312.1:c.*893_*894delinsAT	ENSP00000513247.1:n.*893_*894delinsAT
ENST00000697313.1:n.2687+16770_2687+16771delinsAT
ENST00000697314.1:n.3286_3287delinsAT
ENST00000697315.1:c.1495_1496delinsAT	ENSP00000513248.1:p.Ser499Ile
ENST00000697316.1:n.1616_1617delinsAT
ENST00000697317.1:n.1605_1606delinsAT
ENST00000697318.1:n.1607_1608delinsAT
ENST00000265433.8:c.1495_1496delinsAT MANE Select	ENSP00000265433.4:p.Ser499Ile
ENST00000265433.7:c.1495_1496delinsAT	ENSP00000265433.3:p.Ser499Ile
ENST00000396252.6:c.*1368_*1369delinsAT	ENSP00000379551.2:n.*1368_*1369delinsAT
ENST00000409330.5:c.1249_1250delinsAT	ENSP00000386924.1:p.Ser417Ile
NM_001024688.2:c.1249_1250delinsAT	NP_001019859.1:p.Ser417Ile
NM_002485.4:c.1495_1496delinsAT , LRG_158t1:c.1495_1496delinsAT	NP_002476.2:p.Ser499Ile
XM_011517044.1:c.1471_1472delinsAT	XP_011515346.1:p.Ser491Ile
XM_011517045.1:c.1249_1250delinsAT	XP_011515347.1:p.Ser417Ile
XR_928335.1:n.1634_1635delinsAT
XM_017013460.1:c.616_617delinsAT	XP_016868949.1:p.Ser206Ile
XM_017013462.2:c.616_617delinsAT	XP_016868951.1:p.Ser206Ile
XM_024447163.1:c.1249_1250delinsAT	XP_024302931.1:p.Ser417Ile
XM_024447164.1:c.1249_1250delinsAT	XP_024302932.1:p.Ser417Ile
XM_024447165.1:c.616_617delinsAT	XP_024302933.1:p.Ser206Ile
NM_002485.5:c.1495_1496delinsAT MANE Select	NP_002476.2:p.Ser499Ile
NM_001024688.3:c.1249_1250delinsAT	NP_001019859.1:p.Ser417Ile