Canonical Allele Identifier: CA371677217

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947842C>T , CM000670.2:g.89947842C>T	GRCh38
NC_000008.10:g.90960070C>T , CM000670.1:g.90960070C>T	GRCh37
NC_000008.9:g.91029246C>T	NCBI36
NG_008860.1:g.41830G>A , LRG_158:g.41830G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.1896G>A MANE Select	NP_002476.2:p.Trp632Ter
ENST00000265433.8:c.1896G>A MANE Select	ENSP00000265433.4:p.Trp632Ter
NM_001024688.2:c.1650G>A	NP_001019859.1:p.Trp550Ter
NM_001024688.3:c.1650G>A	NP_001019859.1:p.Trp550Ter
NM_002485.4:c.1896G>A , LRG_158t1:c.1896G>A	NP_002476.2:p.Trp632Ter
ENST00000265433.7:c.1896G>A	ENSP00000265433.3:p.Trp632Ter
ENST00000396252.6:c.*1769G>A	ENSP00000379551.2:n.*1769G>A
ENST00000409330.5:c.1650G>A	ENSP00000386924.1:p.Trp550Ter
ENST00000494804.2:n.3198G>A
ENST00000517337.2:c.1650G>A	ENSP00000429971.2:p.Trp550Ter
ENST00000523444.2:c.1650G>A	ENSP00000428252.2:p.Trp550Ter
ENST00000613033.1:c.162G>A	ENSP00000484487.1:p.Trp54Ter
ENST00000697292.1:c.1896G>A	ENSP00000513229.1:p.Trp632Ter
ENST00000697293.1:c.1896G>A	ENSP00000513230.1:p.Trp632Ter
ENST00000697294.1:c.*1507G>A	ENSP00000513231.1:n.*1507G>A
ENST00000697295.1:c.*1205G>A	ENSP00000513232.1:n.*1205G>A
ENST00000697296.1:c.*1564G>A	ENSP00000513233.1:n.*1564G>A
ENST00000697297.1:n.3681G>A
ENST00000697298.1:c.1650G>A	ENSP00000513234.1:p.Trp550Ter
ENST00000697299.1:c.1650G>A	ENSP00000513235.1:p.Trp550Ter
ENST00000697300.1:c.*1500G>A	ENSP00000513236.1:n.*1500G>A
ENST00000697301.1:c.*1417G>A	ENSP00000513237.1:n.*1417G>A
ENST00000697302.1:c.*1417G>A	ENSP00000513238.1:n.*1417G>A
ENST00000697303.1:c.*1500G>A	ENSP00000513239.1:n.*1500G>A
ENST00000697304.1:c.1584G>A	ENSP00000513240.1:p.Trp528Ter
ENST00000697306.1:c.*919G>A	ENSP00000513241.1:n.*919G>A
ENST00000697307.1:c.1846-4476G>A	ENSP00000513242.1:n.1846-4476G>A
ENST00000697308.1:c.1846-1547G>A	ENSP00000513243.1:n.1846-1547G>A
ENST00000697309.1:c.1896G>A	ENSP00000513244.1:p.Trp632Ter
ENST00000697310.1:c.1896G>A	ENSP00000513245.1:p.Trp632Ter
ENST00000697311.1:c.1896G>A	ENSP00000513246.1:p.Trp632Ter
ENST00000697312.1:c.*1294G>A	ENSP00000513247.1:n.*1294G>A
ENST00000697313.1:n.2688-12230G>A
ENST00000697314.1:n.3636+5402G>A
ENST00000697315.1:c.1896G>A	ENSP00000513248.1:p.Trp632Ter
ENST00000697316.1:n.2017G>A
ENST00000697317.1:n.2005+1G>A
XM_011517044.1:c.1872G>A	XP_011515346.1:p.Trp624Ter
XM_011517045.1:c.1650G>A	XP_011515347.1:p.Trp550Ter
XM_017013460.1:c.1017G>A	XP_016868949.1:p.Trp339Ter
XM_017013462.2:c.1017G>A	XP_016868951.1:p.Trp339Ter
XM_024447163.1:c.1650G>A	XP_024302931.1:p.Trp550Ter
XM_024447164.1:c.1650G>A	XP_024302932.1:p.Trp550Ter
XM_024447165.1:c.1017G>A	XP_024302933.1:p.Trp339Ter
XR_928335.1:n.2035G>A