Canonical Allele Identifier: CA2499219418

Gene: NBN

Linked Data

• ClinVar Variation Id: 1071046
• ClinVar RCV Id: RCV001383391
• dbSNP Id: rs2129701175

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953535del , CM000670.2:g.89953535del	GRCh38
NC_000008.10:g.90965763del , CM000670.1:g.90965763del	GRCh37
NC_000008.9:g.91034939del	NCBI36
NG_008860.1:g.36137del , LRG_158:g.36137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2856del
ENST00000517337.2:c.1308del	ENSP00000429971.2:p.Asp437ThrfsTer10
ENST00000523444.2:c.1308del	ENSP00000428252.2:p.Asp437ThrfsTer10
ENST00000697292.1:c.1554del	ENSP00000513229.1:p.Asp519ThrfsTer10
ENST00000697293.1:c.1554del	ENSP00000513230.1:p.Asp519ThrfsTer10
ENST00000697294.1:c.*1165del	ENSP00000513231.1:n.*1165del
ENST00000697295.1:c.*863del	ENSP00000513232.1:n.*863del
ENST00000697296.1:c.*1222del	ENSP00000513233.1:n.*1222del
ENST00000697297.1:n.3339del
ENST00000697298.1:c.1308del	ENSP00000513234.1:p.Asp437ThrfsTer10
ENST00000697299.1:c.1308del	ENSP00000513235.1:p.Asp437ThrfsTer10
ENST00000697300.1:c.*1158del	ENSP00000513236.1:n.*1158del
ENST00000697301.1:c.*1075del	ENSP00000513237.1:n.*1075del
ENST00000697302.1:c.*1075del	ENSP00000513238.1:n.*1075del
ENST00000697303.1:c.*1158del	ENSP00000513239.1:n.*1158del
ENST00000697304.1:c.1242del	ENSP00000513240.1:p.Asp415ThrfsTer10
ENST00000697306.1:c.*554del	ENSP00000513241.1:n.*554del
ENST00000697307.1:c.1554del	ENSP00000513242.1:p.Asp519ThrfsTer10
ENST00000697308.1:c.1554del	ENSP00000513243.1:p.Asp519ThrfsTer10
ENST00000697309.1:c.1554del	ENSP00000513244.1:p.Asp519ThrfsTer10
ENST00000697310.1:c.1554del	ENSP00000513245.1:p.Asp519ThrfsTer10
ENST00000697311.1:c.1554del	ENSP00000513246.1:p.Asp519ThrfsTer10
ENST00000697312.1:c.*952del	ENSP00000513247.1:n.*952del
ENST00000697313.1:n.2687+16829del
ENST00000697314.1:n.3345del
ENST00000697315.1:c.1554del	ENSP00000513248.1:p.Asp519ThrfsTer10
ENST00000697316.1:n.1675del
ENST00000697317.1:n.1664del
ENST00000697318.1:n.1666del
ENST00000265433.8:c.1554del MANE Select	ENSP00000265433.4:p.Asp519ThrfsTer10
ENST00000265433.7:c.1554del	ENSP00000265433.3:p.Asp519ThrfsTer10
ENST00000396252.6:c.*1427del	ENSP00000379551.2:n.*1427del
ENST00000409330.5:c.1308del	ENSP00000386924.1:p.Asp437ThrfsTer10
NM_001024688.2:c.1308del	NP_001019859.1:p.Asp437ThrfsTer10
NM_002485.4:c.1554del , LRG_158t1:c.1554del	NP_002476.2:p.Asp519ThrfsTer10
XM_011517044.1:c.1530del	XP_011515346.1:p.Asp511ThrfsTer10
XM_011517045.1:c.1308del	XP_011515347.1:p.Asp437ThrfsTer10
XR_928335.1:n.1693del
XM_017013460.1:c.675del	XP_016868949.1:p.Asp226ThrfsTer10
XM_017013462.2:c.675del	XP_016868951.1:p.Asp226ThrfsTer10
XM_024447163.1:c.1308del	XP_024302931.1:p.Asp437ThrfsTer10
XM_024447164.1:c.1308del	XP_024302932.1:p.Asp437ThrfsTer10
XM_024447165.1:c.675del	XP_024302933.1:p.Asp226ThrfsTer10
NM_002485.5:c.1554del MANE Select	NP_002476.2:p.Asp519ThrfsTer10
NM_001024688.3:c.1308del	NP_001019859.1:p.Asp437ThrfsTer10