Canonical Allele Identifier: CA2697549993

Gene: NBN

Linked Data

• ClinVar Variation Id: 2740500
• ClinVar RCV Id: RCV003506748

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953396_89953397del , CM000670.2:g.89953396_89953397del	GRCh38
NC_000008.10:g.90965624_90965625del , CM000670.1:g.90965624_90965625del	GRCh37
NC_000008.9:g.91034800_91034801del	NCBI36
NG_008860.1:g.36276_36277del , LRG_158:g.36276_36277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2995_2996del
ENST00000517337.2:c.1447_1448del	ENSP00000429971.2:p.Gln483ValfsTer12
ENST00000523444.2:c.1447_1448del	ENSP00000428252.2:p.Gln483ValfsTer12
ENST00000697292.1:c.1693_1694del	ENSP00000513229.1:p.Gln565ValfsTer12
ENST00000697293.1:c.1693_1694del	ENSP00000513230.1:p.Gln565ValfsTer12
ENST00000697294.1:c.*1304_*1305del	ENSP00000513231.1:n.*1304_*1305del
ENST00000697295.1:c.*1002_*1003del	ENSP00000513232.1:n.*1002_*1003del
ENST00000697296.1:c.*1361_*1362del	ENSP00000513233.1:n.*1361_*1362del
ENST00000697297.1:n.3478_3479del
ENST00000697298.1:c.1447_1448del	ENSP00000513234.1:p.Gln483ValfsTer12
ENST00000697299.1:c.1447_1448del	ENSP00000513235.1:p.Gln483ValfsTer12
ENST00000697300.1:c.*1297_*1298del	ENSP00000513236.1:n.*1297_*1298del
ENST00000697301.1:c.*1214_*1215del	ENSP00000513237.1:n.*1214_*1215del
ENST00000697302.1:c.*1214_*1215del	ENSP00000513238.1:n.*1214_*1215del
ENST00000697303.1:c.*1297_*1298del	ENSP00000513239.1:n.*1297_*1298del
ENST00000697304.1:c.1381_1382del	ENSP00000513240.1:p.Gln461ValfsTer12
ENST00000697306.1:c.*693_*694del	ENSP00000513241.1:n.*693_*694del
ENST00000697307.1:c.1693_1694del	ENSP00000513242.1:p.Gln565ValfsTer12
ENST00000697308.1:c.1693_1694del	ENSP00000513243.1:p.Gln565ValfsTer12
ENST00000697309.1:c.1693_1694del	ENSP00000513244.1:p.Gln565ValfsTer12
ENST00000697310.1:c.1693_1694del	ENSP00000513245.1:p.Gln565ValfsTer12
ENST00000697311.1:c.1693_1694del	ENSP00000513246.1:p.Gln565ValfsTer12
ENST00000697312.1:c.*1091_*1092del	ENSP00000513247.1:n.*1091_*1092del
ENST00000697313.1:n.2687+16968_2687+16969del
ENST00000697314.1:n.3484_3485del
ENST00000697315.1:c.1693_1694del	ENSP00000513248.1:p.Gln565ValfsTer12
ENST00000697316.1:n.1814_1815del
ENST00000697317.1:n.1803_1804del
ENST00000697318.1:n.1805_1806del
ENST00000265433.8:c.1693_1694del MANE Select	ENSP00000265433.4:p.Gln565ValfsTer12
ENST00000265433.7:c.1693_1694del	ENSP00000265433.3:p.Gln565ValfsTer12
ENST00000396252.6:c.*1566_*1567del	ENSP00000379551.2:n.*1566_*1567del
ENST00000409330.5:c.1447_1448del	ENSP00000386924.1:p.Gln483ValfsTer12
NM_001024688.2:c.1447_1448del	NP_001019859.1:p.Gln483ValfsTer12
NM_002485.4:c.1693_1694del , LRG_158t1:c.1693_1694del	NP_002476.2:p.Gln565ValfsTer12
XM_011517044.1:c.1669_1670del	XP_011515346.1:p.Gln557ValfsTer12
XM_011517045.1:c.1447_1448del	XP_011515347.1:p.Gln483ValfsTer12
XR_928335.1:n.1832_1833del
XM_017013460.1:c.814_815del	XP_016868949.1:p.Gln272ValfsTer12
XM_017013462.2:c.814_815del	XP_016868951.1:p.Gln272ValfsTer12
XM_024447163.1:c.1447_1448del	XP_024302931.1:p.Gln483ValfsTer12
XM_024447164.1:c.1447_1448del	XP_024302932.1:p.Gln483ValfsTer12
XM_024447165.1:c.814_815del	XP_024302933.1:p.Gln272ValfsTer12
NM_002485.5:c.1693_1694del MANE Select	NP_002476.2:p.Gln565ValfsTer12
NM_001024688.3:c.1447_1448del	NP_001019859.1:p.Gln483ValfsTer12