Canonical Allele Identifier: CA2580079000

Gene: NBN

Linked Data

• ClinVar Variation Id: 1787426
• ClinVar RCV Id: RCV002417969

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937070_89937071del , CM000670.2:g.89937070_89937071del	GRCh38
NC_000008.10:g.90949298_90949299del , CM000670.1:g.90949298_90949299del	GRCh37
NC_000008.9:g.91018474_91018475del	NCBI36
NG_008860.1:g.52603_52604del , LRG_158:g.52603_52604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3611_3612del
ENST00000494804.2:n.3493_3494del
ENST00000517337.2:c.1945_1946del	ENSP00000429971.2:p.Asn649SerfsTer10
ENST00000523444.2:c.1945_1946del	ENSP00000428252.2:p.Asn649SerfsTer10
ENST00000697292.1:c.2191_2192del	ENSP00000513229.1:p.Asn731SerfsTer10
ENST00000697293.1:c.2242_2243del	ENSP00000513230.1:p.Asn748SerfsTer10
ENST00000697294.1:c.*1802_*1803del	ENSP00000513231.1:n.*1802_*1803del
ENST00000697295.1:c.*1500_*1501del	ENSP00000513232.1:n.*1500_*1501del
ENST00000697296.1:c.*1859_*1860del	ENSP00000513233.1:n.*1859_*1860del
ENST00000697297.1:n.3976_3977del
ENST00000697298.1:c.1945_1946del	ENSP00000513234.1:p.Asn649SerfsTer10
ENST00000697299.1:c.1945_1946del	ENSP00000513235.1:p.Asn649SerfsTer10
ENST00000697300.1:c.*1795_*1796del	ENSP00000513236.1:n.*1795_*1796del
ENST00000697301.1:c.*1712_*1713del	ENSP00000513237.1:n.*1712_*1713del
ENST00000697302.1:c.*1712_*1713del	ENSP00000513238.1:n.*1712_*1713del
ENST00000697303.1:c.*1795_*1796del	ENSP00000513239.1:n.*1795_*1796del
ENST00000697304.1:c.1879_1880del	ENSP00000513240.1:p.Asn627SerfsTer10
ENST00000697305.1:n.2458_2459del
ENST00000697306.1:c.*2742_*2743del	ENSP00000513241.1:n.*2742_*2743del
ENST00000697307.1:c.1966_1967del	ENSP00000513242.1:p.Asn656SerfsTer10
ENST00000697308.1:c.2122_2123del	ENSP00000513243.1:p.Asn708SerfsTer10
ENST00000697309.1:c.2185-1457_2185-1456del	ENSP00000513244.1:n.2185-1457_2185-1456del
ENST00000697310.1:c.2191_2192del	ENSP00000513245.1:p.Asn731SerfsTer10
ENST00000697311.1:c.*456_*457del	ENSP00000513246.1:n.*456_*457del
ENST00000697312.1:c.*1644_*1645del	ENSP00000513247.1:n.*1644_*1645del
ENST00000697313.1:n.2688-1457_2688-1456del
ENST00000697314.1:n.3637-1457_3637-1456del
ENST00000697315.1:c.*95_*96del	ENSP00000513248.1:n.*95_*96del
ENST00000697316.1:n.2312_2313del
ENST00000265433.8:c.2191_2192del MANE Select	ENSP00000265433.4:p.Asn731SerfsTer10
ENST00000265433.7:c.2191_2192del	ENSP00000265433.3:p.Asn731SerfsTer10
ENST00000396252.6:c.*2064_*2065del	ENSP00000379551.2:n.*2064_*2065del
ENST00000409330.5:c.1945_1946del	ENSP00000386924.1:p.Asn649SerfsTer10
ENST00000474821.1:n.279_280del
ENST00000613033.1:c.301_302del	ENSP00000484487.1:p.Asn101SerfsTer10
NM_001024688.2:c.1945_1946del	NP_001019859.1:p.Asn649SerfsTer10
NM_002485.4:c.2191_2192del , LRG_158t1:c.2191_2192del	NP_002476.2:p.Asn731SerfsTer10
XM_011517044.1:c.2167_2168del	XP_011515346.1:p.Asn723SerfsTer10
XM_011517045.1:c.1945_1946del	XP_011515347.1:p.Asn649SerfsTer10
XM_017013460.1:c.1312_1313del	XP_016868949.1:p.Asn438SerfsTer10
XM_017013462.2:c.1312_1313del	XP_016868951.1:p.Asn438SerfsTer10
XM_024447163.1:c.1945_1946del	XP_024302931.1:p.Asn649SerfsTer10
XM_024447164.1:c.1945_1946del	XP_024302932.1:p.Asn649SerfsTer10
XM_024447165.1:c.1312_1313del	XP_024302933.1:p.Asn438SerfsTer10
NM_002485.5:c.2191_2192del MANE Select	NP_002476.2:p.Asn731SerfsTer10
NM_001024688.3:c.1945_1946del	NP_001019859.1:p.Asn649SerfsTer10