Canonical Allele Identifier: CA2717850962

Gene: NBN

Linked Data

• dbSNP Id: rs2129648605

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946254_89946255insA , CM000670.2:g.89946254_89946255insA	GRCh38
NC_000008.10:g.90958482_90958483insA , CM000670.1:g.90958482_90958483insA	GRCh37
NC_000008.9:g.91027658_91027659insA	NCBI36
NG_008860.1:g.43417_43418insT , LRG_158:g.43417_43418insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3257_3258insT
ENST00000517337.2:c.1709_1710insT	ENSP00000429971.2:p.Lys570AsnfsTer7
ENST00000523444.2:c.1709_1710insT	ENSP00000428252.2:p.Lys570AsnfsTer7
ENST00000697292.1:c.1955_1956insT	ENSP00000513229.1:p.Lys652AsnfsTer7
ENST00000697293.1:c.1955_1956insT	ENSP00000513230.1:p.Lys652AsnfsTer7
ENST00000697294.1:c.*1566_*1567insT	ENSP00000513231.1:n.*1566_*1567insT
ENST00000697295.1:c.*1264_*1265insT	ENSP00000513232.1:n.*1264_*1265insT
ENST00000697296.1:c.*1623_*1624insT	ENSP00000513233.1:n.*1623_*1624insT
ENST00000697297.1:n.3740_3741insT
ENST00000697298.1:c.1709_1710insT	ENSP00000513234.1:p.Lys570AsnfsTer7
ENST00000697299.1:c.1709_1710insT	ENSP00000513235.1:p.Lys570AsnfsTer7
ENST00000697300.1:c.*1559_*1560insT	ENSP00000513236.1:n.*1559_*1560insT
ENST00000697301.1:c.*1476_*1477insT	ENSP00000513237.1:n.*1476_*1477insT
ENST00000697302.1:c.*1476_*1477insT	ENSP00000513238.1:n.*1476_*1477insT
ENST00000697303.1:c.*1559_*1560insT	ENSP00000513239.1:n.*1559_*1560insT
ENST00000697304.1:c.1643_1644insT	ENSP00000513240.1:p.Lys548AsnfsTer7
ENST00000697306.1:c.*2506_*2507insT	ENSP00000513241.1:n.*2506_*2507insT
ENST00000697307.1:c.1846-2889_1846-2888insT	ENSP00000513242.1:n.1846-2889_1846-2888insT
ENST00000697308.1:c.1886_1887insT	ENSP00000513243.1:p.Lys629AsnfsTer7
ENST00000697309.1:c.1955_1956insT	ENSP00000513244.1:p.Lys652AsnfsTer7
ENST00000697310.1:c.1955_1956insT	ENSP00000513245.1:p.Lys652AsnfsTer7
ENST00000697311.1:c.1955_1956insT	ENSP00000513246.1:p.Lys652AsnfsTer7
ENST00000697312.1:c.*1353_*1354insT	ENSP00000513247.1:n.*1353_*1354insT
ENST00000697313.1:n.2688-10643_2688-10642insT
ENST00000697314.1:n.3636+6989_3636+6990insT
ENST00000697315.1:c.1955_1956insT	ENSP00000513248.1:p.Lys652AsnfsTer7
ENST00000697316.1:n.2076_2077insT
ENST00000697317.1:n.2046_2047insT
ENST00000265433.8:c.1955_1956insT MANE Select	ENSP00000265433.4:p.Lys652AsnfsTer7
ENST00000265433.7:c.1955_1956insT	ENSP00000265433.3:p.Lys652AsnfsTer7
ENST00000396252.6:c.*1828_*1829insT	ENSP00000379551.2:n.*1828_*1829insT
ENST00000409330.5:c.1709_1710insT	ENSP00000386924.1:p.Lys570AsnfsTer7
ENST00000520325.1:n.371_372insT
ENST00000613033.1:c.180+1569_180+1570insT	ENSP00000484487.1:n.180+1569_180+1570insT
NM_001024688.2:c.1709_1710insT	NP_001019859.1:p.Lys570AsnfsTer7
NM_002485.4:c.1955_1956insT , LRG_158t1:c.1955_1956insT	NP_002476.2:p.Lys652AsnfsTer7
XM_011517044.1:c.1931_1932insT	XP_011515346.1:p.Lys644AsnfsTer7
XM_011517045.1:c.1709_1710insT	XP_011515347.1:p.Lys570AsnfsTer7
XM_017013460.1:c.1076_1077insT	XP_016868949.1:p.Lys359AsnfsTer7
XM_017013462.2:c.1076_1077insT	XP_016868951.1:p.Lys359AsnfsTer7
XM_024447163.1:c.1709_1710insT	XP_024302931.1:p.Lys570AsnfsTer7
XM_024447164.1:c.1709_1710insT	XP_024302932.1:p.Lys570AsnfsTer7
XM_024447165.1:c.1076_1077insT	XP_024302933.1:p.Lys359AsnfsTer7
NM_002485.5:c.1955_1956insT MANE Select	NP_002476.2:p.Lys652AsnfsTer7
NM_001024688.3:c.1709_1710insT	NP_001019859.1:p.Lys570AsnfsTer7