Canonical Allele Identifier: CA371675336

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943271C>T , CM000670.2:g.89943271C>T	GRCh38
NC_000008.10:g.90955499C>T , CM000670.1:g.90955499C>T	GRCh37
NC_000008.9:g.91024675C>T	NCBI36
NG_008860.1:g.46401G>A , LRG_158:g.46401G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002485.5:c.2166G>A MANE Select	NP_002476.2:p.Trp722Ter
ENST00000265433.8:c.2166G>A MANE Select	ENSP00000265433.4:p.Trp722Ter
NM_001024688.2:c.1920G>A	NP_001019859.1:p.Trp640Ter
NM_001024688.3:c.1920G>A	NP_001019859.1:p.Trp640Ter
NM_002485.4:c.2166G>A , LRG_158t1:c.2166G>A	NP_002476.2:p.Trp722Ter
ENST00000265433.7:c.2166G>A	ENSP00000265433.3:p.Trp722Ter
ENST00000396252.6:c.*2039G>A	ENSP00000379551.2:n.*2039G>A
ENST00000409330.5:c.1920G>A	ENSP00000386924.1:p.Trp640Ter
ENST00000494804.2:n.3468G>A
ENST00000517337.2:c.1920G>A	ENSP00000429971.2:p.Trp640Ter
ENST00000523444.2:c.1920G>A	ENSP00000428252.2:p.Trp640Ter
ENST00000613033.1:c.276G>A	ENSP00000484487.1:p.Trp92Ter
ENST00000697292.1:c.2166G>A	ENSP00000513229.1:p.Trp722Ter
ENST00000697293.1:c.2166G>A	ENSP00000513230.1:p.Trp722Ter
ENST00000697294.1:c.*1777G>A	ENSP00000513231.1:n.*1777G>A
ENST00000697295.1:c.*1475G>A	ENSP00000513232.1:n.*1475G>A
ENST00000697296.1:c.*1834G>A	ENSP00000513233.1:n.*1834G>A
ENST00000697297.1:n.3951G>A
ENST00000697298.1:c.1920G>A	ENSP00000513234.1:p.Trp640Ter
ENST00000697299.1:c.1920G>A	ENSP00000513235.1:p.Trp640Ter
ENST00000697300.1:c.*1770G>A	ENSP00000513236.1:n.*1770G>A
ENST00000697301.1:c.*1687G>A	ENSP00000513237.1:n.*1687G>A
ENST00000697302.1:c.*1687G>A	ENSP00000513238.1:n.*1687G>A
ENST00000697303.1:c.*1770G>A	ENSP00000513239.1:n.*1770G>A
ENST00000697304.1:c.1854G>A	ENSP00000513240.1:p.Trp618Ter
ENST00000697305.1:n.2433G>A
ENST00000697306.1:c.*2717G>A	ENSP00000513241.1:n.*2717G>A
ENST00000697307.1:c.1941G>A	ENSP00000513242.1:p.Trp647Ter
ENST00000697308.1:c.2097G>A	ENSP00000513243.1:p.Trp699Ter
ENST00000697309.1:c.2166G>A	ENSP00000513244.1:p.Trp722Ter
ENST00000697310.1:c.2166G>A	ENSP00000513245.1:p.Trp722Ter
ENST00000697311.1:c.2166G>A	ENSP00000513246.1:p.Trp722Ter
ENST00000697312.1:c.*1564G>A	ENSP00000513247.1:n.*1564G>A
ENST00000697313.1:n.2688-7659G>A
ENST00000697314.1:n.3637-7659G>A
ENST00000697315.1:c.2166G>A	ENSP00000513248.1:p.Trp722Ter
ENST00000697316.1:n.2287G>A
XM_011517044.1:c.2142G>A	XP_011515346.1:p.Trp714Ter
XM_011517045.1:c.1920G>A	XP_011515347.1:p.Trp640Ter
XM_017013460.1:c.1287G>A	XP_016868949.1:p.Trp429Ter
XM_017013462.2:c.1287G>A	XP_016868951.1:p.Trp429Ter
XM_024447163.1:c.1920G>A	XP_024302931.1:p.Trp640Ter
XM_024447164.1:c.1920G>A	XP_024302932.1:p.Trp640Ter
XM_024447165.1:c.1287G>A	XP_024302933.1:p.Trp429Ter