Canonical Allele Identifier: CA2566324017

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89955459_89955460del , CM000670.2:g.89955459_89955460del	GRCh38
NC_000008.10:g.90967687_90967688del , CM000670.1:g.90967687_90967688del	GRCh37
NC_000008.9:g.91036863_91036864del	NCBI36
NG_008860.1:g.34212_34213del , LRG_158:g.34212_34213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2522_2523del
ENST00000517337.2:c.974_975del	ENSP00000429971.2:p.Cys325Ter
ENST00000523444.2:c.974_975del	ENSP00000428252.2:p.Cys325Ter
ENST00000697292.1:c.1220_1221del	ENSP00000513229.1:p.Cys407Ter
ENST00000697293.1:c.1220_1221del	ENSP00000513230.1:p.Cys407Ter
ENST00000697294.1:c.*831_*832del	ENSP00000513231.1:n.*831_*832del
ENST00000697295.1:c.*529_*530del	ENSP00000513232.1:n.*529_*530del
ENST00000697296.1:c.*888_*889del	ENSP00000513233.1:n.*888_*889del
ENST00000697297.1:n.3005_3006del
ENST00000697298.1:c.974_975del	ENSP00000513234.1:p.Cys325Ter
ENST00000697299.1:c.974_975del	ENSP00000513235.1:p.Cys325Ter
ENST00000697300.1:c.*824_*825del	ENSP00000513236.1:n.*824_*825del
ENST00000697301.1:c.*741_*742del	ENSP00000513237.1:n.*741_*742del
ENST00000697302.1:c.*741_*742del	ENSP00000513238.1:n.*741_*742del
ENST00000697303.1:c.*824_*825del	ENSP00000513239.1:n.*824_*825del
ENST00000697304.1:c.908_909del	ENSP00000513240.1:p.Cys303Ter
ENST00000697306.1:c.*220_*221del	ENSP00000513241.1:n.*220_*221del
ENST00000697307.1:c.1220_1221del	ENSP00000513242.1:p.Cys407Ter
ENST00000697308.1:c.1220_1221del	ENSP00000513243.1:p.Cys407Ter
ENST00000697309.1:c.1220_1221del	ENSP00000513244.1:p.Cys407Ter
ENST00000697310.1:c.1220_1221del	ENSP00000513245.1:p.Cys407Ter
ENST00000697311.1:c.1220_1221del	ENSP00000513246.1:p.Cys407Ter
ENST00000697312.1:c.*618_*619del	ENSP00000513247.1:n.*618_*619del
ENST00000697313.1:n.2687+14904_2687+14905del
ENST00000697314.1:n.3011_3012del
ENST00000697315.1:c.1220_1221del	ENSP00000513248.1:p.Cys407Ter
ENST00000697316.1:n.1341_1342del
ENST00000697317.1:n.1330_1331del
ENST00000697318.1:n.1332_1333del
ENST00000265433.8:c.1220_1221del MANE Select	ENSP00000265433.4:p.Cys407Ter
ENST00000265433.7:c.1220_1221del	ENSP00000265433.3:p.Cys407Ter
ENST00000396252.6:c.*1093_*1094del	ENSP00000379551.2:n.*1093_*1094del
ENST00000409330.5:c.974_975del	ENSP00000386924.1:p.Cys325Ter
NM_001024688.2:c.974_975del	NP_001019859.1:p.Cys325Ter
NM_002485.4:c.1220_1221del , LRG_158t1:c.1220_1221del	NP_002476.2:p.Cys407Ter
XM_011517044.1:c.1196_1197del	XP_011515346.1:p.Cys399Ter
XM_011517045.1:c.974_975del	XP_011515347.1:p.Cys325Ter
XM_011517046.1:c.1220_1221del	XP_011515348.1:p.Cys407Ter
XR_928335.1:n.1357_1358del
XM_017013460.1:c.341_342del	XP_016868949.1:p.Cys114Ter
XM_017013462.2:c.341_342del	XP_016868951.1:p.Cys114Ter
XM_024447163.1:c.974_975del	XP_024302931.1:p.Cys325Ter
XM_024447164.1:c.974_975del	XP_024302932.1:p.Cys325Ter
XM_024447165.1:c.341_342del	XP_024302933.1:p.Cys114Ter
NM_002485.5:c.1220_1221del MANE Select	NP_002476.2:p.Cys407Ter
NM_001024688.3:c.974_975del	NP_001019859.1:p.Cys325Ter