Canonical Allele Identifier: CA371676355

Gene: NBN

Linked Data

• COSMIC: COSM366700
• MyVariant Identifiers: chr8:g.90958386A>T (hg19) ; chr8:g.89946158A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946158A>T , CM000670.2:g.89946158A>T	GRCh38
NC_000008.10:g.90958386A>T , CM000670.1:g.90958386A>T	GRCh37
NC_000008.9:g.91027562A>T	NCBI36
NG_008860.1:g.43514T>A , LRG_158:g.43514T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3354T>A
ENST00000517337.2:c.1806T>A	ENSP00000429971.2:p.Asn602Lys
ENST00000523444.2:c.1806T>A	ENSP00000428252.2:p.Asn602Lys
ENST00000697292.1:c.2052T>A	ENSP00000513229.1:p.Asn684Lys
ENST00000697293.1:c.2052T>A	ENSP00000513230.1:p.Asn684Lys
ENST00000697294.1:c.*1663T>A	ENSP00000513231.1:n.*1663T>A
ENST00000697295.1:c.*1361T>A	ENSP00000513232.1:n.*1361T>A
ENST00000697296.1:c.*1720T>A	ENSP00000513233.1:n.*1720T>A
ENST00000697297.1:n.3837T>A
ENST00000697298.1:c.1806T>A	ENSP00000513234.1:p.Asn602Lys
ENST00000697299.1:c.1806T>A	ENSP00000513235.1:p.Asn602Lys
ENST00000697300.1:c.*1656T>A	ENSP00000513236.1:n.*1656T>A
ENST00000697301.1:c.*1573T>A	ENSP00000513237.1:n.*1573T>A
ENST00000697302.1:c.*1573T>A	ENSP00000513238.1:n.*1573T>A
ENST00000697303.1:c.*1656T>A	ENSP00000513239.1:n.*1656T>A
ENST00000697304.1:c.1740T>A	ENSP00000513240.1:p.Asn580Lys
ENST00000697306.1:c.*2603T>A	ENSP00000513241.1:n.*2603T>A
ENST00000697307.1:c.1846-2792T>A	ENSP00000513242.1:n.1846-2792T>A
ENST00000697308.1:c.1983T>A	ENSP00000513243.1:p.Asn661Lys
ENST00000697309.1:c.2052T>A	ENSP00000513244.1:p.Asn684Lys
ENST00000697310.1:c.2052T>A	ENSP00000513245.1:p.Asn684Lys
ENST00000697311.1:c.2052T>A	ENSP00000513246.1:p.Asn684Lys
ENST00000697312.1:c.*1450T>A	ENSP00000513247.1:n.*1450T>A
ENST00000697313.1:n.2688-10546T>A
ENST00000697314.1:n.3636+7086T>A
ENST00000697315.1:c.2052T>A	ENSP00000513248.1:p.Asn684Lys
ENST00000697316.1:n.2173T>A
ENST00000697317.1:n.2143T>A
ENST00000265433.8:c.2052T>A MANE Select	ENSP00000265433.4:p.Asn684Lys
ENST00000265433.7:c.2052T>A	ENSP00000265433.3:p.Asn684Lys
ENST00000396252.6:c.*1925T>A	ENSP00000379551.2:n.*1925T>A
ENST00000409330.5:c.1806T>A	ENSP00000386924.1:p.Asn602Lys
ENST00000520325.1:n.468T>A
ENST00000613033.1:c.180+1666T>A	ENSP00000484487.1:n.180+1666T>A
NM_001024688.2:c.1806T>A	NP_001019859.1:p.Asn602Lys
NM_002485.4:c.2052T>A , LRG_158t1:c.2052T>A	NP_002476.2:p.Asn684Lys
XM_011517044.1:c.2028T>A	XP_011515346.1:p.Asn676Lys
XM_011517045.1:c.1806T>A	XP_011515347.1:p.Asn602Lys
XM_017013460.1:c.1173T>A	XP_016868949.1:p.Asn391Lys
XM_017013462.2:c.1173T>A	XP_016868951.1:p.Asn391Lys
XM_024447163.1:c.1806T>A	XP_024302931.1:p.Asn602Lys
XM_024447164.1:c.1806T>A	XP_024302932.1:p.Asn602Lys
XM_024447165.1:c.1173T>A	XP_024302933.1:p.Asn391Lys
NM_002485.5:c.2052T>A MANE Select	NP_002476.2:p.Asn684Lys
NM_001024688.3:c.1806T>A	NP_001019859.1:p.Asn602Lys