Canonical Allele Identifier: CA2687854434

Gene: NBN

Linked Data

• gnomAD v4: 8-89953619-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953622_89953623del , CM000670.2:g.89953622_89953623del	GRCh38
NC_000008.10:g.90965850_90965851del , CM000670.1:g.90965850_90965851del	GRCh37
NC_000008.9:g.91035026_91035027del	NCBI36
NG_008860.1:g.36051_36052del , LRG_158:g.36051_36052del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2770_2771del
ENST00000517337.2:c.1222_1223del	ENSP00000429971.2:p.Leu408ArgfsTer14
ENST00000523444.2:c.1222_1223del	ENSP00000428252.2:p.Leu408ArgfsTer14
ENST00000697292.1:c.1468_1469del	ENSP00000513229.1:p.Leu490ArgfsTer14
ENST00000697293.1:c.1468_1469del	ENSP00000513230.1:p.Leu490ArgfsTer14
ENST00000697294.1:c.*1079_*1080del	ENSP00000513231.1:n.*1079_*1080del
ENST00000697295.1:c.*777_*778del	ENSP00000513232.1:n.*777_*778del
ENST00000697296.1:c.*1136_*1137del	ENSP00000513233.1:n.*1136_*1137del
ENST00000697297.1:n.3253_3254del
ENST00000697298.1:c.1222_1223del	ENSP00000513234.1:p.Leu408ArgfsTer14
ENST00000697299.1:c.1222_1223del	ENSP00000513235.1:p.Leu408ArgfsTer14
ENST00000697300.1:c.*1072_*1073del	ENSP00000513236.1:n.*1072_*1073del
ENST00000697301.1:c.*989_*990del	ENSP00000513237.1:n.*989_*990del
ENST00000697302.1:c.*989_*990del	ENSP00000513238.1:n.*989_*990del
ENST00000697303.1:c.*1072_*1073del	ENSP00000513239.1:n.*1072_*1073del
ENST00000697304.1:c.1156_1157del	ENSP00000513240.1:p.Leu386ArgfsTer14
ENST00000697306.1:c.*468_*469del	ENSP00000513241.1:n.*468_*469del
ENST00000697307.1:c.1468_1469del	ENSP00000513242.1:p.Leu490ArgfsTer14
ENST00000697308.1:c.1468_1469del	ENSP00000513243.1:p.Leu490ArgfsTer14
ENST00000697309.1:c.1468_1469del	ENSP00000513244.1:p.Leu490ArgfsTer14
ENST00000697310.1:c.1468_1469del	ENSP00000513245.1:p.Leu490ArgfsTer14
ENST00000697311.1:c.1468_1469del	ENSP00000513246.1:p.Leu490ArgfsTer14
ENST00000697312.1:c.*866_*867del	ENSP00000513247.1:n.*866_*867del
ENST00000697313.1:n.2687+16743_2687+16744del
ENST00000697314.1:n.3259_3260del
ENST00000697315.1:c.1468_1469del	ENSP00000513248.1:p.Leu490ArgfsTer14
ENST00000697316.1:n.1589_1590del
ENST00000697317.1:n.1578_1579del
ENST00000697318.1:n.1580_1581del
ENST00000265433.8:c.1468_1469del MANE Select	ENSP00000265433.4:p.Leu490ArgfsTer14
ENST00000265433.7:c.1468_1469del	ENSP00000265433.3:p.Leu490ArgfsTer14
ENST00000396252.6:c.*1341_*1342del	ENSP00000379551.2:n.*1341_*1342del
ENST00000409330.5:c.1222_1223del	ENSP00000386924.1:p.Leu408ArgfsTer14
NM_001024688.2:c.1222_1223del	NP_001019859.1:p.Leu408ArgfsTer14
NM_002485.4:c.1468_1469del , LRG_158t1:c.1468_1469del	NP_002476.2:p.Leu490ArgfsTer14
XM_011517044.1:c.1444_1445del	XP_011515346.1:p.Leu482ArgfsTer14
XM_011517045.1:c.1222_1223del	XP_011515347.1:p.Leu408ArgfsTer14
XR_928335.1:n.1607_1608del
XM_017013460.1:c.589_590del	XP_016868949.1:p.Leu197ArgfsTer14
XM_017013462.2:c.589_590del	XP_016868951.1:p.Leu197ArgfsTer14
XM_024447163.1:c.1222_1223del	XP_024302931.1:p.Leu408ArgfsTer14
XM_024447164.1:c.1222_1223del	XP_024302932.1:p.Leu408ArgfsTer14
XM_024447165.1:c.589_590del	XP_024302933.1:p.Leu197ArgfsTer14
NM_002485.5:c.1468_1469del MANE Select	NP_002476.2:p.Leu490ArgfsTer14
NM_001024688.3:c.1222_1223del	NP_001019859.1:p.Leu408ArgfsTer14