Canonical Allele Identifier: CA2554768294

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953350_89953351insTT , CM000670.2:g.89953350_89953351insTT	GRCh38
NC_000008.10:g.90965578_90965579insTT , CM000670.1:g.90965578_90965579insTT	GRCh37
NC_000008.9:g.91034754_91034755insTT	NCBI36
NG_008860.1:g.36321_36322insAA , LRG_158:g.36321_36322insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3040_3041insAA
ENST00000517337.2:c.1492_1493insAA	ENSP00000429971.2:p.Val498GlufsTer19
ENST00000523444.2:c.1492_1493insAA	ENSP00000428252.2:p.Val498GlufsTer19
ENST00000697292.1:c.1738_1739insAA	ENSP00000513229.1:p.Val580GlufsTer19
ENST00000697293.1:c.1738_1739insAA	ENSP00000513230.1:p.Val580GlufsTer19
ENST00000697294.1:c.*1349_*1350insAA	ENSP00000513231.1:n.*1349_*1350insAA
ENST00000697295.1:c.*1047_*1048insAA	ENSP00000513232.1:n.*1047_*1048insAA
ENST00000697296.1:c.*1406_*1407insAA	ENSP00000513233.1:n.*1406_*1407insAA
ENST00000697297.1:n.3523_3524insAA
ENST00000697298.1:c.1492_1493insAA	ENSP00000513234.1:p.Val498GlufsTer19
ENST00000697299.1:c.1492_1493insAA	ENSP00000513235.1:p.Val498GlufsTer19
ENST00000697300.1:c.*1342_*1343insAA	ENSP00000513236.1:n.*1342_*1343insAA
ENST00000697301.1:c.*1259_*1260insAA	ENSP00000513237.1:n.*1259_*1260insAA
ENST00000697302.1:c.*1259_*1260insAA	ENSP00000513238.1:n.*1259_*1260insAA
ENST00000697303.1:c.*1342_*1343insAA	ENSP00000513239.1:n.*1342_*1343insAA
ENST00000697304.1:c.1426_1427insAA	ENSP00000513240.1:p.Val476GlufsTer19
ENST00000697306.1:c.*738_*739insAA	ENSP00000513241.1:n.*738_*739insAA
ENST00000697307.1:c.1738_1739insAA	ENSP00000513242.1:p.Val580GlufsTer19
ENST00000697308.1:c.1738_1739insAA	ENSP00000513243.1:p.Val580GlufsTer19
ENST00000697309.1:c.1738_1739insAA	ENSP00000513244.1:p.Val580GlufsTer19
ENST00000697310.1:c.1738_1739insAA	ENSP00000513245.1:p.Val580GlufsTer19
ENST00000697311.1:c.1738_1739insAA	ENSP00000513246.1:p.Val580GlufsTer19
ENST00000697312.1:c.*1136_*1137insAA	ENSP00000513247.1:n.*1136_*1137insAA
ENST00000697313.1:n.2687+17013_2687+17014insAA
ENST00000697314.1:n.3529_3530insAA
ENST00000697315.1:c.1738_1739insAA	ENSP00000513248.1:p.Val580GlufsTer19
ENST00000697316.1:n.1859_1860insAA
ENST00000697317.1:n.1848_1849insAA
ENST00000697318.1:n.1850_1851insAA
ENST00000265433.8:c.1738_1739insAA MANE Select	ENSP00000265433.4:p.Val580GlufsTer19
ENST00000265433.7:c.1738_1739insAA	ENSP00000265433.3:p.Val580GlufsTer19
ENST00000396252.6:c.*1611_*1612insAA	ENSP00000379551.2:n.*1611_*1612insAA
ENST00000409330.5:c.1492_1493insAA	ENSP00000386924.1:p.Val498GlufsTer19
ENST00000613033.1:c.4_5insAA	ENSP00000484487.1:p.Val2GlufsTer19
NM_001024688.2:c.1492_1493insAA	NP_001019859.1:p.Val498GlufsTer19
NM_002485.4:c.1738_1739insAA , LRG_158t1:c.1738_1739insAA	NP_002476.2:p.Val580GlufsTer19
XM_011517044.1:c.1714_1715insAA	XP_011515346.1:p.Val572GlufsTer19
XM_011517045.1:c.1492_1493insAA	XP_011515347.1:p.Val498GlufsTer19
XR_928335.1:n.1877_1878insAA
XM_017013460.1:c.859_860insAA	XP_016868949.1:p.Val287GlufsTer19
XM_017013462.2:c.859_860insAA	XP_016868951.1:p.Val287GlufsTer19
XM_024447163.1:c.1492_1493insAA	XP_024302931.1:p.Val498GlufsTer19
XM_024447164.1:c.1492_1493insAA	XP_024302932.1:p.Val498GlufsTer19
XM_024447165.1:c.859_860insAA	XP_024302933.1:p.Val287GlufsTer19
NM_002485.5:c.1738_1739insAA MANE Select	NP_002476.2:p.Val580GlufsTer19
NM_001024688.3:c.1492_1493insAA	NP_001019859.1:p.Val498GlufsTer19