Canonical Allele Identifier: CA918312320

Gene: NBN

Linked Data

• dbSNP Id: rs1554556519

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946196del , CM000670.2:g.89946196del	GRCh38
NC_000008.10:g.90958424del , CM000670.1:g.90958424del	GRCh37
NC_000008.9:g.91027600del	NCBI36
NG_008860.1:g.43477del , LRG_158:g.43477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3317del
ENST00000517337.2:c.1769del	ENSP00000429971.2:p.Pro590HisfsTer4
ENST00000523444.2:c.1769del	ENSP00000428252.2:p.Pro590HisfsTer4
ENST00000697292.1:c.2015del	ENSP00000513229.1:p.Pro672HisfsTer4
ENST00000697293.1:c.2015del	ENSP00000513230.1:p.Pro672HisfsTer4
ENST00000697294.1:c.*1626del	ENSP00000513231.1:n.*1626del
ENST00000697295.1:c.*1324del	ENSP00000513232.1:n.*1324del
ENST00000697296.1:c.*1683del	ENSP00000513233.1:n.*1683del
ENST00000697297.1:n.3800del
ENST00000697298.1:c.1769del	ENSP00000513234.1:p.Pro590HisfsTer4
ENST00000697299.1:c.1769del	ENSP00000513235.1:p.Pro590HisfsTer4
ENST00000697300.1:c.*1619del	ENSP00000513236.1:n.*1619del
ENST00000697301.1:c.*1536del	ENSP00000513237.1:n.*1536del
ENST00000697302.1:c.*1536del	ENSP00000513238.1:n.*1536del
ENST00000697303.1:c.*1619del	ENSP00000513239.1:n.*1619del
ENST00000697304.1:c.1703del	ENSP00000513240.1:p.Pro568HisfsTer4
ENST00000697306.1:c.*2566del	ENSP00000513241.1:n.*2566del
ENST00000697307.1:c.1846-2829del	ENSP00000513242.1:n.1846-2829del
ENST00000697308.1:c.1946del	ENSP00000513243.1:p.Pro649HisfsTer4
ENST00000697309.1:c.2015del	ENSP00000513244.1:p.Pro672HisfsTer4
ENST00000697310.1:c.2015del	ENSP00000513245.1:p.Pro672HisfsTer4
ENST00000697311.1:c.2015del	ENSP00000513246.1:p.Pro672HisfsTer4
ENST00000697312.1:c.*1413del	ENSP00000513247.1:n.*1413del
ENST00000697313.1:n.2688-10583del
ENST00000697314.1:n.3636+7049del
ENST00000697315.1:c.2015del	ENSP00000513248.1:p.Pro672HisfsTer4
ENST00000697316.1:n.2136del
ENST00000697317.1:n.2106del
ENST00000265433.8:c.2015del MANE Select	ENSP00000265433.4:p.Pro672HisfsTer4
ENST00000265433.7:c.2015del	ENSP00000265433.3:p.Pro672HisfsTer4
ENST00000396252.6:c.*1888del	ENSP00000379551.2:n.*1888del
ENST00000409330.5:c.1769del	ENSP00000386924.1:p.Pro590HisfsTer4
ENST00000520325.1:n.431del
ENST00000613033.1:c.180+1629del	ENSP00000484487.1:n.180+1629del
NM_001024688.2:c.1769del	NP_001019859.1:p.Pro590HisfsTer4
NM_002485.4:c.2015del , LRG_158t1:c.2015del	NP_002476.2:p.Pro672HisfsTer4
XM_011517044.1:c.1991del	XP_011515346.1:p.Pro664HisfsTer4
XM_011517045.1:c.1769del	XP_011515347.1:p.Pro590HisfsTer4
XM_017013460.1:c.1136del	XP_016868949.1:p.Pro379HisfsTer4
XM_017013462.2:c.1136del	XP_016868951.1:p.Pro379HisfsTer4
XM_024447163.1:c.1769del	XP_024302931.1:p.Pro590HisfsTer4
XM_024447164.1:c.1769del	XP_024302932.1:p.Pro590HisfsTer4
XM_024447165.1:c.1136del	XP_024302933.1:p.Pro379HisfsTer4
NM_002485.5:c.2015del MANE Select	NP_002476.2:p.Pro672HisfsTer4
NM_001024688.3:c.1769del	NP_001019859.1:p.Pro590HisfsTer4