Canonical Allele Identifier: CA891842839

Gene: NBN

Linked Data

• ClinVar Variation Id: 575328
• ClinVar RCV Id: RCV000697515
• dbSNP Id: rs1563525210
• MyVariant Identifiers: chr8:g.90965580del (hg19) ; chr8:g.89953352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953354del , CM000670.2:g.89953354del	GRCh38
NC_000008.10:g.90965582del , CM000670.1:g.90965582del	GRCh37
NC_000008.9:g.91034758del	NCBI36
NG_008860.1:g.36320del , LRG_158:g.36320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3039del
ENST00000517337.2:c.1491del	ENSP00000429971.2:p.Val498PhefsTer18
ENST00000523444.2:c.1491del	ENSP00000428252.2:p.Val498PhefsTer18
ENST00000697292.1:c.1737del	ENSP00000513229.1:p.Val580PhefsTer18
ENST00000697293.1:c.1737del	ENSP00000513230.1:p.Val580PhefsTer18
ENST00000697294.1:c.*1348del	ENSP00000513231.1:n.*1348del
ENST00000697295.1:c.*1046del	ENSP00000513232.1:n.*1046del
ENST00000697296.1:c.*1405del	ENSP00000513233.1:n.*1405del
ENST00000697297.1:n.3522del
ENST00000697298.1:c.1491del	ENSP00000513234.1:p.Val498PhefsTer18
ENST00000697299.1:c.1491del	ENSP00000513235.1:p.Val498PhefsTer18
ENST00000697300.1:c.*1341del	ENSP00000513236.1:n.*1341del
ENST00000697301.1:c.*1258del	ENSP00000513237.1:n.*1258del
ENST00000697302.1:c.*1258del	ENSP00000513238.1:n.*1258del
ENST00000697303.1:c.*1341del	ENSP00000513239.1:n.*1341del
ENST00000697304.1:c.1425del	ENSP00000513240.1:p.Val476PhefsTer18
ENST00000697306.1:c.*737del	ENSP00000513241.1:n.*737del
ENST00000697307.1:c.1737del	ENSP00000513242.1:p.Val580PhefsTer18
ENST00000697308.1:c.1737del	ENSP00000513243.1:p.Val580PhefsTer18
ENST00000697309.1:c.1737del	ENSP00000513244.1:p.Val580PhefsTer18
ENST00000697310.1:c.1737del	ENSP00000513245.1:p.Val580PhefsTer18
ENST00000697311.1:c.1737del	ENSP00000513246.1:p.Val580PhefsTer18
ENST00000697312.1:c.*1135del	ENSP00000513247.1:n.*1135del
ENST00000697313.1:n.2687+17012del
ENST00000697314.1:n.3528del
ENST00000697315.1:c.1737del	ENSP00000513248.1:p.Val580PhefsTer18
ENST00000697316.1:n.1858del
ENST00000697317.1:n.1847del
ENST00000697318.1:n.1849del
ENST00000265433.8:c.1737del MANE Select	ENSP00000265433.4:p.Val580PhefsTer18
ENST00000265433.7:c.1737del	ENSP00000265433.3:p.Val580PhefsTer18
ENST00000396252.6:c.*1610del	ENSP00000379551.2:n.*1610del
ENST00000409330.5:c.1491del	ENSP00000386924.1:p.Val498PhefsTer18
ENST00000613033.1:c.3del	ENSP00000484487.1:p.Val2PhefsTer18
NM_001024688.2:c.1491del	NP_001019859.1:p.Val498PhefsTer18
NM_002485.4:c.1737del , LRG_158t1:c.1737del	NP_002476.2:p.Val580PhefsTer18
XM_011517044.1:c.1713del	XP_011515346.1:p.Val572PhefsTer18
XM_011517045.1:c.1491del	XP_011515347.1:p.Val498PhefsTer18
XR_928335.1:n.1876del
XM_017013460.1:c.858del	XP_016868949.1:p.Val287PhefsTer18
XM_017013462.2:c.858del	XP_016868951.1:p.Val287PhefsTer18
XM_024447163.1:c.1491del	XP_024302931.1:p.Val498PhefsTer18
XM_024447164.1:c.1491del	XP_024302932.1:p.Val498PhefsTer18
XM_024447165.1:c.858del	XP_024302933.1:p.Val287PhefsTer18
NM_002485.5:c.1737del MANE Select	NP_002476.2:p.Val580PhefsTer18
NM_001024688.3:c.1491del	NP_001019859.1:p.Val498PhefsTer18