Canonical Allele Identifier: CA2580079064

Gene: NBN

Linked Data

• ClinVar Variation Id: 1725095
• ClinVar RCV Id: RCV002308154

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953494_89953510del , CM000670.2:g.89953494_89953510del	GRCh38
NC_000008.10:g.90965722_90965738del , CM000670.1:g.90965722_90965738del	GRCh37
NC_000008.9:g.91034898_91034914del	NCBI36
NG_008860.1:g.36164_36180del , LRG_158:g.36164_36180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2883_2899del
ENST00000517337.2:c.1335_1351del	ENSP00000429971.2:p.Asp445GlufsTer6
ENST00000523444.2:c.1335_1351del	ENSP00000428252.2:p.Asp445GlufsTer6
ENST00000697292.1:c.1581_1597del	ENSP00000513229.1:p.Asp527GlufsTer6
ENST00000697293.1:c.1581_1597del	ENSP00000513230.1:p.Asp527GlufsTer6
ENST00000697294.1:c.*1192_*1208del	ENSP00000513231.1:n.*1192_*1208del
ENST00000697295.1:c.*890_*906del	ENSP00000513232.1:n.*890_*906del
ENST00000697296.1:c.*1249_*1265del	ENSP00000513233.1:n.*1249_*1265del
ENST00000697297.1:n.3366_3382del
ENST00000697298.1:c.1335_1351del	ENSP00000513234.1:p.Asp445GlufsTer6
ENST00000697299.1:c.1335_1351del	ENSP00000513235.1:p.Asp445GlufsTer6
ENST00000697300.1:c.*1185_*1201del	ENSP00000513236.1:n.*1185_*1201del
ENST00000697301.1:c.*1102_*1118del	ENSP00000513237.1:n.*1102_*1118del
ENST00000697302.1:c.*1102_*1118del	ENSP00000513238.1:n.*1102_*1118del
ENST00000697303.1:c.*1185_*1201del	ENSP00000513239.1:n.*1185_*1201del
ENST00000697304.1:c.1269_1285del	ENSP00000513240.1:p.Asp423GlufsTer6
ENST00000697306.1:c.*581_*597del	ENSP00000513241.1:n.*581_*597del
ENST00000697307.1:c.1581_1597del	ENSP00000513242.1:p.Asp527GlufsTer6
ENST00000697308.1:c.1581_1597del	ENSP00000513243.1:p.Asp527GlufsTer6
ENST00000697309.1:c.1581_1597del	ENSP00000513244.1:p.Asp527GlufsTer6
ENST00000697310.1:c.1581_1597del	ENSP00000513245.1:p.Asp527GlufsTer6
ENST00000697311.1:c.1581_1597del	ENSP00000513246.1:p.Asp527GlufsTer6
ENST00000697312.1:c.*979_*995del	ENSP00000513247.1:n.*979_*995del
ENST00000697313.1:n.2687+16856_2687+16872del
ENST00000697314.1:n.3372_3388del
ENST00000697315.1:c.1581_1597del	ENSP00000513248.1:p.Asp527GlufsTer6
ENST00000697316.1:n.1702_1718del
ENST00000697317.1:n.1691_1707del
ENST00000697318.1:n.1693_1709del
ENST00000265433.8:c.1581_1597del MANE Select	ENSP00000265433.4:p.Asp527GlufsTer6
ENST00000265433.7:c.1581_1597del	ENSP00000265433.3:p.Asp527GlufsTer6
ENST00000396252.6:c.*1454_*1470del	ENSP00000379551.2:n.*1454_*1470del
ENST00000409330.5:c.1335_1351del	ENSP00000386924.1:p.Asp445GlufsTer6
NM_001024688.2:c.1335_1351del	NP_001019859.1:p.Asp445GlufsTer6
NM_002485.4:c.1581_1597del , LRG_158t1:c.1581_1597del	NP_002476.2:p.Asp527GlufsTer6
XM_011517044.1:c.1557_1573del	XP_011515346.1:p.Asp519GlufsTer6
XM_011517045.1:c.1335_1351del	XP_011515347.1:p.Asp445GlufsTer6
XR_928335.1:n.1720_1736del
XM_017013460.1:c.702_718del	XP_016868949.1:p.Asp234GlufsTer6
XM_017013462.2:c.702_718del	XP_016868951.1:p.Asp234GlufsTer6
XM_024447163.1:c.1335_1351del	XP_024302931.1:p.Asp445GlufsTer6
XM_024447164.1:c.1335_1351del	XP_024302932.1:p.Asp445GlufsTer6
XM_024447165.1:c.702_718del	XP_024302933.1:p.Asp234GlufsTer6
NM_002485.5:c.1581_1597del MANE Select	NP_002476.2:p.Asp527GlufsTer6
NM_001024688.3:c.1335_1351del	NP_001019859.1:p.Asp445GlufsTer6