Canonical Allele Identifier: CA181273259

Gene: NBN

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943252C>T , CM000670.2:g.89943252C>T	GRCh38
NC_000008.10:g.90955480C>T , CM000670.1:g.90955480C>T	GRCh37
NC_000008.9:g.91024656C>T	NCBI36
NG_008860.1:g.46420G>A , LRG_158:g.46420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3486+1G>A
ENST00000517337.2:c.1938+1G>A	ENSP00000429971.2:n.1938+1G>A
ENST00000523444.2:c.1938+1G>A	ENSP00000428252.2:n.1938+1G>A
ENST00000697292.1:c.2184+1G>A	ENSP00000513229.1:n.2184+1G>A
ENST00000697293.1:c.2184+1G>A	ENSP00000513230.1:n.2184+1G>A
ENST00000697294.1:c.*1795+1G>A	ENSP00000513231.1:n.*1795+1G>A
ENST00000697295.1:c.*1493+1G>A	ENSP00000513232.1:n.*1493+1G>A
ENST00000697296.1:c.*1852+1G>A	ENSP00000513233.1:n.*1852+1G>A
ENST00000697297.1:n.3969+1G>A
ENST00000697298.1:c.1938+1G>A	ENSP00000513234.1:n.1938+1G>A
ENST00000697299.1:c.1938+1G>A	ENSP00000513235.1:n.1938+1G>A
ENST00000697300.1:c.*1788+1G>A	ENSP00000513236.1:n.*1788+1G>A
ENST00000697301.1:c.*1705+1G>A	ENSP00000513237.1:n.*1705+1G>A
ENST00000697302.1:c.*1705+1G>A	ENSP00000513238.1:n.*1705+1G>A
ENST00000697303.1:c.*1788+1G>A	ENSP00000513239.1:n.*1788+1G>A
ENST00000697304.1:c.1872+1G>A	ENSP00000513240.1:n.1872+1G>A
ENST00000697305.1:n.2451+1G>A
ENST00000697306.1:c.*2735+1G>A	ENSP00000513241.1:n.*2735+1G>A
ENST00000697307.1:c.1959+1G>A	ENSP00000513242.1:n.1959+1G>A
ENST00000697308.1:c.2115+1G>A	ENSP00000513243.1:n.2115+1G>A
ENST00000697309.1:c.2184+1G>A	ENSP00000513244.1:n.2184+1G>A
ENST00000697310.1:c.2184+1G>A	ENSP00000513245.1:n.2184+1G>A
ENST00000697311.1:c.2185G>A	ENSP00000513246.1:p.Val729Ile
ENST00000697312.1:c.*1582+1G>A	ENSP00000513247.1:n.*1582+1G>A
ENST00000697313.1:n.2688-7640G>A
ENST00000697314.1:n.3637-7640G>A
ENST00000697315.1:c.2184+1G>A	ENSP00000513248.1:n.2184+1G>A
ENST00000697316.1:n.2305+1G>A
ENST00000265433.8:c.2184+1G>A MANE Select	ENSP00000265433.4:n.2184+1G>A
ENST00000265433.7:c.2184+1G>A	ENSP00000265433.3:n.2184+1G>A
ENST00000396252.6:c.*2057+1G>A	ENSP00000379551.2:n.*2057+1G>A
ENST00000409330.5:c.1938+1G>A	ENSP00000386924.1:n.1938+1G>A
ENST00000613033.1:c.294+1G>A	ENSP00000484487.1:n.294+1G>A
NM_001024688.2:c.1938+1G>A	NP_001019859.1:n.1938+1G>A
NM_002485.4:c.2184+1G>A , LRG_158t1:c.2184+1G>A	NP_002476.2:n.2184+1G>A
XM_011517044.1:c.2160+1G>A	XP_011515346.1:n.2160+1G>A
XM_011517045.1:c.1938+1G>A	XP_011515347.1:n.1938+1G>A
XM_017013460.1:c.1305+1G>A	XP_016868949.1:n.1305+1G>A
XM_017013462.2:c.1305+1G>A	XP_016868951.1:n.1305+1G>A
XM_024447163.1:c.1938+1G>A	XP_024302931.1:n.1938+1G>A
XM_024447164.1:c.1938+1G>A	XP_024302932.1:n.1938+1G>A
XM_024447165.1:c.1305+1G>A	XP_024302933.1:n.1305+1G>A
NM_002485.5:c.2184+1G>A MANE Select	NP_002476.2:n.2184+1G>A
NM_001024688.3:c.1938+1G>A	NP_001019859.1:n.1938+1G>A