Canonical Allele Identifier: CA2573143325

Gene: NBN

Linked Data

• ClinVar Variation Id: 1503796
• ClinVar RCV Id: RCV002045519
• dbSNP Id: rs2130739278

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937054_89937058del , CM000670.2:g.89937054_89937058del	GRCh38
NC_000008.10:g.90949282_90949286del , CM000670.1:g.90949282_90949286del	GRCh37
NC_000008.9:g.91018458_91018462del	NCBI36
NG_008860.1:g.52616_52620del , LRG_158:g.52616_52620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3624_3628del
ENST00000494804.2:n.3506_3510del
ENST00000517337.2:c.1958_1962del	ENSP00000429971.2:p.Lys653ArgfsTer5
ENST00000523444.2:c.1958_1962del	ENSP00000428252.2:p.Lys653ArgfsTer5
ENST00000697292.1:c.2204_2208del	ENSP00000513229.1:p.Lys735ArgfsTer5
ENST00000697293.1:c.2255_2259del	ENSP00000513230.1:p.Lys752ArgfsTer5
ENST00000697294.1:c.*1815_*1819del	ENSP00000513231.1:n.*1815_*1819del
ENST00000697295.1:c.*1513_*1517del	ENSP00000513232.1:n.*1513_*1517del
ENST00000697296.1:c.*1872_*1876del	ENSP00000513233.1:n.*1872_*1876del
ENST00000697297.1:n.3989_3993del
ENST00000697298.1:c.1958_1962del	ENSP00000513234.1:p.Lys653ArgfsTer5
ENST00000697299.1:c.1958_1962del	ENSP00000513235.1:p.Lys653ArgfsTer5
ENST00000697300.1:c.*1808_*1812del	ENSP00000513236.1:n.*1808_*1812del
ENST00000697301.1:c.*1725_*1729del	ENSP00000513237.1:n.*1725_*1729del
ENST00000697302.1:c.*1725_*1729del	ENSP00000513238.1:n.*1725_*1729del
ENST00000697303.1:c.*1808_*1812del	ENSP00000513239.1:n.*1808_*1812del
ENST00000697304.1:c.1892_1896del	ENSP00000513240.1:p.Lys631ArgfsTer5
ENST00000697305.1:n.2471_2475del
ENST00000697306.1:c.*2755_*2759del	ENSP00000513241.1:n.*2755_*2759del
ENST00000697307.1:c.1979_1983del	ENSP00000513242.1:p.Lys660ArgfsTer5
ENST00000697308.1:c.2135_2139del	ENSP00000513243.1:p.Lys712ArgfsTer5
ENST00000697309.1:c.2185-1444_2185-1440del	ENSP00000513244.1:n.2185-1444_2185-1440del
ENST00000697310.1:c.2204_2208del	ENSP00000513245.1:p.Lys735ArgfsTer5
ENST00000697311.1:c.*469_*473del	ENSP00000513246.1:n.*469_*473del
ENST00000697312.1:c.*1657_*1661del	ENSP00000513247.1:n.*1657_*1661del
ENST00000697313.1:n.2688-1444_2688-1440del
ENST00000697314.1:n.3637-1444_3637-1440del
ENST00000697315.1:c.*108_*112del	ENSP00000513248.1:n.*108_*112del
ENST00000697316.1:n.2325_2329del
ENST00000265433.8:c.2204_2208del MANE Select	ENSP00000265433.4:p.Lys735ArgfsTer5
ENST00000265433.7:c.2204_2208del	ENSP00000265433.3:p.Lys735ArgfsTer5
ENST00000396252.6:c.*2077_*2081del	ENSP00000379551.2:n.*2077_*2081del
ENST00000409330.5:c.1958_1962del	ENSP00000386924.1:p.Lys653ArgfsTer5
ENST00000474821.1:n.292_296del
ENST00000613033.1:c.314_318del	ENSP00000484487.1:p.Lys105ArgfsTer5
NM_001024688.2:c.1958_1962del	NP_001019859.1:p.Lys653ArgfsTer5
NM_002485.4:c.2204_2208del , LRG_158t1:c.2204_2208del	NP_002476.2:p.Lys735ArgfsTer5
XM_011517044.1:c.2180_2184del	XP_011515346.1:p.Lys727ArgfsTer5
XM_011517045.1:c.1958_1962del	XP_011515347.1:p.Lys653ArgfsTer5
XM_017013460.1:c.1325_1329del	XP_016868949.1:p.Lys442ArgfsTer5
XM_017013462.2:c.1325_1329del	XP_016868951.1:p.Lys442ArgfsTer5
XM_024447163.1:c.1958_1962del	XP_024302931.1:p.Lys653ArgfsTer5
XM_024447164.1:c.1958_1962del	XP_024302932.1:p.Lys653ArgfsTer5
XM_024447165.1:c.1325_1329del	XP_024302933.1:p.Lys442ArgfsTer5
NM_002485.5:c.2204_2208del MANE Select	NP_002476.2:p.Lys735ArgfsTer5
NM_001024688.3:c.1958_1962del	NP_001019859.1:p.Lys653ArgfsTer5