Canonical Allele Identifier: CA2580079066

Gene: NBN

Linked Data

• ClinVar Variation Id: 2091959
• ClinVar RCV Id: RCV002991753

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953523_89953525del , CM000670.2:g.89953523_89953525del	GRCh38
NC_000008.10:g.90965751_90965753del , CM000670.1:g.90965751_90965753del	GRCh37
NC_000008.9:g.91034927_91034929del	NCBI36
NG_008860.1:g.36149_36151del , LRG_158:g.36149_36151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2868_2870del
ENST00000517337.2:c.1320_1322del	ENSP00000429971.2:p.Leu440del
ENST00000523444.2:c.1320_1322del	ENSP00000428252.2:p.Leu440del
ENST00000697292.1:c.1566_1568del	ENSP00000513229.1:p.Leu522del
ENST00000697293.1:c.1566_1568del	ENSP00000513230.1:p.Leu522del
ENST00000697294.1:c.*1177_*1179del	ENSP00000513231.1:n.*1177_*1179del
ENST00000697295.1:c.*875_*877del	ENSP00000513232.1:n.*875_*877del
ENST00000697296.1:c.*1234_*1236del	ENSP00000513233.1:n.*1234_*1236del
ENST00000697297.1:n.3351_3353del
ENST00000697298.1:c.1320_1322del	ENSP00000513234.1:p.Leu440del
ENST00000697299.1:c.1320_1322del	ENSP00000513235.1:p.Leu440del
ENST00000697300.1:c.*1170_*1172del	ENSP00000513236.1:n.*1170_*1172del
ENST00000697301.1:c.*1087_*1089del	ENSP00000513237.1:n.*1087_*1089del
ENST00000697302.1:c.*1087_*1089del	ENSP00000513238.1:n.*1087_*1089del
ENST00000697303.1:c.*1170_*1172del	ENSP00000513239.1:n.*1170_*1172del
ENST00000697304.1:c.1254_1256del	ENSP00000513240.1:p.Leu418del
ENST00000697306.1:c.*566_*568del	ENSP00000513241.1:n.*566_*568del
ENST00000697307.1:c.1566_1568del	ENSP00000513242.1:p.Leu522del
ENST00000697308.1:c.1566_1568del	ENSP00000513243.1:p.Leu522del
ENST00000697309.1:c.1566_1568del	ENSP00000513244.1:p.Leu522del
ENST00000697310.1:c.1566_1568del	ENSP00000513245.1:p.Leu522del
ENST00000697311.1:c.1566_1568del	ENSP00000513246.1:p.Leu522del
ENST00000697312.1:c.*964_*966del	ENSP00000513247.1:n.*964_*966del
ENST00000697313.1:n.2687+16841_2687+16843del
ENST00000697314.1:n.3357_3359del
ENST00000697315.1:c.1566_1568del	ENSP00000513248.1:p.Leu522del
ENST00000697316.1:n.1687_1689del
ENST00000697317.1:n.1676_1678del
ENST00000697318.1:n.1678_1680del
ENST00000265433.8:c.1566_1568del MANE Select	ENSP00000265433.4:p.Leu522del
ENST00000265433.7:c.1566_1568del	ENSP00000265433.3:p.Leu522del
ENST00000396252.6:c.*1439_*1441del	ENSP00000379551.2:n.*1439_*1441del
ENST00000409330.5:c.1320_1322del	ENSP00000386924.1:p.Leu440del
NM_001024688.2:c.1320_1322del	NP_001019859.1:p.Leu440del
NM_002485.4:c.1566_1568del , LRG_158t1:c.1566_1568del	NP_002476.2:p.Leu522del
XM_011517044.1:c.1542_1544del	XP_011515346.1:p.Leu514del
XM_011517045.1:c.1320_1322del	XP_011515347.1:p.Leu440del
XR_928335.1:n.1705_1707del
XM_017013460.1:c.687_689del	XP_016868949.1:p.Leu229del
XM_017013462.2:c.687_689del	XP_016868951.1:p.Leu229del
XM_024447163.1:c.1320_1322del	XP_024302931.1:p.Leu440del
XM_024447164.1:c.1320_1322del	XP_024302932.1:p.Leu440del
XM_024447165.1:c.687_689del	XP_024302933.1:p.Leu229del
NM_002485.5:c.1566_1568del MANE Select	NP_002476.2:p.Leu522del
NM_001024688.3:c.1320_1322del	NP_001019859.1:p.Leu440del