Canonical Allele Identifier: CA1801420300

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947878A= , CM000670.2:g.89947878A=	GRCh38
NC_000008.10:g.90960106A= , CM000670.1:g.90960106A=	GRCh37
NC_000008.9:g.91029282A=	NCBI36
NG_008860.1:g.41794T= , LRG_158:g.41794T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3162T=
ENST00000517337.2:c.1614T=	ENSP00000429971.2:p.Ile538=
ENST00000523444.2:c.1614T=	ENSP00000428252.2:p.Ile538=
ENST00000697292.1:c.1860T=	ENSP00000513229.1:p.Ile620=
ENST00000697293.1:c.1860T=	ENSP00000513230.1:p.Ile620=
ENST00000697294.1:c.*1471T=	ENSP00000513231.1:n.*1471T=
ENST00000697295.1:c.*1169T=	ENSP00000513232.1:n.*1169T=
ENST00000697296.1:c.*1528T=	ENSP00000513233.1:n.*1528T=
ENST00000697297.1:n.3645T=
ENST00000697298.1:c.1614T=	ENSP00000513234.1:p.Ile538=
ENST00000697299.1:c.1614T=	ENSP00000513235.1:p.Ile538=
ENST00000697300.1:c.*1464T=	ENSP00000513236.1:n.*1464T=
ENST00000697301.1:c.*1381T=	ENSP00000513237.1:n.*1381T=
ENST00000697302.1:c.*1381T=	ENSP00000513238.1:n.*1381T=
ENST00000697303.1:c.*1464T=	ENSP00000513239.1:n.*1464T=
ENST00000697304.1:c.1548T=	ENSP00000513240.1:p.Ile516=
ENST00000697306.1:c.*883T=	ENSP00000513241.1:n.*883T=
ENST00000697307.1:c.1846-4512T=	ENSP00000513242.1:n.1846-4512T=
ENST00000697308.1:c.1846-1583T=	ENSP00000513243.1:n.1846-1583T=
ENST00000697309.1:c.1860T=	ENSP00000513244.1:p.Ile620=
ENST00000697310.1:c.1860T=	ENSP00000513245.1:p.Ile620=
ENST00000697311.1:c.1860T=	ENSP00000513246.1:p.Ile620=
ENST00000697312.1:c.*1258T=	ENSP00000513247.1:n.*1258T=
ENST00000697313.1:n.2688-12266T=
ENST00000697314.1:n.3636+5366T=
ENST00000697315.1:c.1860T=	ENSP00000513248.1:p.Ile620=
ENST00000697316.1:n.1981T=
ENST00000697317.1:n.1970T=
ENST00000265433.8:c.1860T= MANE Select	ENSP00000265433.4:p.Ile620=
ENST00000265433.7:c.1860T=	ENSP00000265433.3:p.Ile620=
ENST00000396252.6:c.*1733T=	ENSP00000379551.2:n.*1733T=
ENST00000409330.5:c.1614T=	ENSP00000386924.1:p.Ile538=
ENST00000613033.1:c.126T=	ENSP00000484487.1:p.Ile42=
NM_001024688.2:c.1614T=	NP_001019859.1:p.Ile538=
NM_002485.4:c.1860T= , LRG_158t1:c.1860T=	NP_002476.2:p.Ile620=
XM_011517044.1:c.1836T=	XP_011515346.1:p.Ile612=
XM_011517045.1:c.1614T=	XP_011515347.1:p.Ile538=
XR_928335.1:n.1999T=
XM_017013460.1:c.981T=	XP_016868949.1:p.Ile327=
XM_017013462.2:c.981T=	XP_016868951.1:p.Ile327=
XM_024447163.1:c.1614T=	XP_024302931.1:p.Ile538=
XM_024447164.1:c.1614T=	XP_024302932.1:p.Ile538=
XM_024447165.1:c.981T=	XP_024302933.1:p.Ile327=
NM_002485.5:c.1860T= MANE Select	NP_002476.2:p.Ile620=
NM_001024688.3:c.1614T=	NP_001019859.1:p.Ile538=