Canonical Allele Identifier: CA2697549992

Gene: NBN

Linked Data

• ClinVar Variation Id: 2764800
• ClinVar RCV Id: RCV003507785

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947846_89948621del , CM000670.2:g.89947846_89948621del	GRCh38
NC_000008.10:g.90960074_90960849del , CM000670.1:g.90960074_90960849del	GRCh37
NC_000008.9:g.91029250_91030025del	NCBI36
NG_008860.1:g.41054_41829del , LRG_158:g.41054_41829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3148-726_3197del
ENST00000517337.2:c.1600-726_1649del
ENST00000523444.2:c.1600-726_1649del
ENST00000697292.1:c.1846-726_1895del
ENST00000697293.1:c.1846-726_1895del
ENST00000697294.1:c.*1457-726_*1506del
ENST00000697295.1:c.*1155-726_*1204del
ENST00000697296.1:c.*1514-726_*1563del
ENST00000697297.1:n.3631-726_3680del
ENST00000697298.1:c.1600-726_1649del
ENST00000697299.1:c.1600-726_1649del
ENST00000697300.1:c.*1450-726_*1499del
ENST00000697301.1:c.*1367-726_*1416del
ENST00000697302.1:c.*1367-726_*1416del
ENST00000697303.1:c.*1450-726_*1499del
ENST00000697304.1:c.1534-726_1583del
ENST00000697306.1:c.*846-703_*918del
ENST00000697307.1:c.1845+4626_1846-4477del	ENSP00000513242.1:n.1845+4626_1846-4477del
ENST00000697308.1:c.1846-2323_1846-1548del	ENSP00000513243.1:n.1846-2323_1846-1548del
ENST00000697309.1:c.1846-726_1895del
ENST00000697310.1:c.1846-726_1895del
ENST00000697311.1:c.1846-726_1895del
ENST00000697312.1:c.*1244-726_*1293del
ENST00000697313.1:n.2688-13006_2688-12231del
ENST00000697314.1:n.3636+4626_3636+5401del
ENST00000697315.1:c.1846-726_1895del
ENST00000697316.1:n.1967-726_2016del
ENST00000697317.1:n.1956-726_2005del
ENST00000265433.8:c.1846-726_1895del
ENST00000265433.7:c.1846-726_1895del
ENST00000396252.6:c.*1719-726_*1768del
ENST00000409330.5:c.1600-726_1649del
ENST00000613033.1:c.112-726_161del
NM_001024688.2:c.1600-726_1649del
NM_002485.4:c.1846-726_1895del , LRG_158t1:c.1846-726_1895del
XM_011517044.1:c.1822-726_1871del
XM_011517045.1:c.1600-726_1649del
XR_928335.1:n.1985-726_2034del
XM_017013460.1:c.967-726_1016del
XM_017013462.2:c.967-726_1016del
XM_024447163.1:c.1600-726_1649del
XM_024447164.1:c.1600-726_1649del
XM_024447165.1:c.967-726_1016del
NM_002485.5:c.1846-726_1895del
NM_001024688.3:c.1600-726_1649del