Canonical Allele Identifier: CA299633

Gene: NBN

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943320G>C , CM000670.2:g.89943320G>C	GRCh38
NC_000008.10:g.90955548G>C , CM000670.1:g.90955548G>C	GRCh37
NC_000008.9:g.91024724G>C	NCBI36
NG_008860.1:g.46352C>G , LRG_158:g.46352C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3419C>G
ENST00000517337.2:c.1871C>G	ENSP00000429971.2:p.Ser624Ter
ENST00000523444.2:c.1871C>G	ENSP00000428252.2:p.Ser624Ter
ENST00000697292.1:c.2117C>G	ENSP00000513229.1:p.Ser706Ter
ENST00000697293.1:c.2117C>G	ENSP00000513230.1:p.Ser706Ter
ENST00000697294.1:c.*1728C>G	ENSP00000513231.1:n.*1728C>G
ENST00000697295.1:c.*1426C>G	ENSP00000513232.1:n.*1426C>G
ENST00000697296.1:c.*1785C>G	ENSP00000513233.1:n.*1785C>G
ENST00000697297.1:n.3902C>G
ENST00000697298.1:c.1871C>G	ENSP00000513234.1:p.Ser624Ter
ENST00000697299.1:c.1871C>G	ENSP00000513235.1:p.Ser624Ter
ENST00000697300.1:c.*1721C>G	ENSP00000513236.1:n.*1721C>G
ENST00000697301.1:c.*1638C>G	ENSP00000513237.1:n.*1638C>G
ENST00000697302.1:c.*1638C>G	ENSP00000513238.1:n.*1638C>G
ENST00000697303.1:c.*1721C>G	ENSP00000513239.1:n.*1721C>G
ENST00000697304.1:c.1805C>G	ENSP00000513240.1:p.Ser602Ter
ENST00000697305.1:n.2384C>G
ENST00000697306.1:c.*2668C>G	ENSP00000513241.1:n.*2668C>G
ENST00000697307.1:c.1892C>G	ENSP00000513242.1:p.Ser631Ter
ENST00000697308.1:c.2048C>G	ENSP00000513243.1:p.Ser683Ter
ENST00000697309.1:c.2117C>G	ENSP00000513244.1:p.Ser706Ter
ENST00000697310.1:c.2117C>G	ENSP00000513245.1:p.Ser706Ter
ENST00000697311.1:c.2117C>G	ENSP00000513246.1:p.Ser706Ter
ENST00000697312.1:c.*1515C>G	ENSP00000513247.1:n.*1515C>G
ENST00000697313.1:n.2688-7708C>G
ENST00000697314.1:n.3637-7708C>G
ENST00000697315.1:c.2117C>G	ENSP00000513248.1:p.Ser706Ter
ENST00000697316.1:n.2238C>G
ENST00000265433.8:c.2117C>G MANE Select	ENSP00000265433.4:p.Ser706Ter
ENST00000265433.7:c.2117C>G	ENSP00000265433.3:p.Ser706Ter
ENST00000396252.6:c.*1990C>G	ENSP00000379551.2:n.*1990C>G
ENST00000409330.5:c.1871C>G	ENSP00000386924.1:p.Ser624Ter
ENST00000613033.1:c.227C>G	ENSP00000484487.1:p.Ser76Ter
NM_001024688.2:c.1871C>G	NP_001019859.1:p.Ser624Ter
NM_002485.4:c.2117C>G , LRG_158t1:c.2117C>G	NP_002476.2:p.Ser706Ter
XM_011517044.1:c.2093C>G	XP_011515346.1:p.Ser698Ter
XM_011517045.1:c.1871C>G	XP_011515347.1:p.Ser624Ter
XM_017013460.1:c.1238C>G	XP_016868949.1:p.Ser413Ter
XM_017013462.2:c.1238C>G	XP_016868951.1:p.Ser413Ter
XM_024447163.1:c.1871C>G	XP_024302931.1:p.Ser624Ter
XM_024447164.1:c.1871C>G	XP_024302932.1:p.Ser624Ter
XM_024447165.1:c.1238C>G	XP_024302933.1:p.Ser413Ter
NM_002485.5:c.2117C>G MANE Select	NP_002476.2:p.Ser706Ter
NM_001024688.3:c.1871C>G	NP_001019859.1:p.Ser624Ter