Canonical Allele Identifier: CA913141961

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949277_90949280del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937049_89937052del , CM000670.2:g.89937049_89937052del	GRCh38
NC_000008.10:g.90949277_90949280del , CM000670.1:g.90949277_90949280del	GRCh37
NC_000008.9:g.91018453_91018456del	NCBI36
NG_008860.1:g.52620_52623del , LRG_158:g.52620_52623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3628_3631del
ENST00000494804.2:n.3510_3513del
ENST00000517337.2:c.1962_1965del	ENSP00000429971.2:p.Glu654AspfsTer14
ENST00000523444.2:c.1962_1965del	ENSP00000428252.2:p.Glu654AspfsTer14
ENST00000697292.1:c.2208_2211del	ENSP00000513229.1:p.Glu736AspfsTer14
ENST00000697293.1:c.2259_2262del	ENSP00000513230.1:p.Glu753AspfsTer14
ENST00000697294.1:c.*1819_*1822del	ENSP00000513231.1:n.*1819_*1822del
ENST00000697295.1:c.*1517_*1520del	ENSP00000513232.1:n.*1517_*1520del
ENST00000697296.1:c.*1876_*1879del	ENSP00000513233.1:n.*1876_*1879del
ENST00000697297.1:n.3993_3996del
ENST00000697298.1:c.1962_1965del	ENSP00000513234.1:p.Glu654AspfsTer14
ENST00000697299.1:c.1962_1965del	ENSP00000513235.1:p.Glu654AspfsTer14
ENST00000697300.1:c.*1812_*1815del	ENSP00000513236.1:n.*1812_*1815del
ENST00000697301.1:c.*1729_*1732del	ENSP00000513237.1:n.*1729_*1732del
ENST00000697302.1:c.*1729_*1732del	ENSP00000513238.1:n.*1729_*1732del
ENST00000697303.1:c.*1812_*1815del	ENSP00000513239.1:n.*1812_*1815del
ENST00000697304.1:c.1896_1899del	ENSP00000513240.1:p.Glu632AspfsTer14
ENST00000697305.1:n.2475_2478del
ENST00000697306.1:c.*2759_*2762del	ENSP00000513241.1:n.*2759_*2762del
ENST00000697307.1:c.1983_1986del	ENSP00000513242.1:p.Glu661AspfsTer14
ENST00000697308.1:c.2139_2142del	ENSP00000513243.1:p.Glu713AspfsTer14
ENST00000697309.1:c.2185-1440_2185-1437del	ENSP00000513244.1:n.2185-1440_2185-1437del
ENST00000697310.1:c.2208_2211del	ENSP00000513245.1:p.Glu736AspfsTer14
ENST00000697311.1:c.*473_*476del	ENSP00000513246.1:n.*473_*476del
ENST00000697312.1:c.*1661_*1664del	ENSP00000513247.1:n.*1661_*1664del
ENST00000697313.1:n.2688-1440_2688-1437del
ENST00000697314.1:n.3637-1440_3637-1437del
ENST00000697315.1:c.*112_*115del	ENSP00000513248.1:n.*112_*115del
ENST00000697316.1:n.2329_2332del
ENST00000265433.8:c.2208_2211del MANE Select	ENSP00000265433.4:p.Glu736AspfsTer14
ENST00000265433.7:c.2208_2211del	ENSP00000265433.3:p.Glu736AspfsTer14
ENST00000396252.6:c.*2081_*2084del	ENSP00000379551.2:n.*2081_*2084del
ENST00000409330.5:c.1962_1965del	ENSP00000386924.1:p.Glu654AspfsTer14
ENST00000474821.1:n.296_299del
ENST00000613033.1:c.318_321del	ENSP00000484487.1:p.Glu106AspfsTer14
NM_001024688.2:c.1962_1965del	NP_001019859.1:p.Glu654AspfsTer14
NM_002485.4:c.2208_2211del , LRG_158t1:c.2208_2211del	NP_002476.2:p.Glu736AspfsTer14
XM_011517044.1:c.2184_2187del	XP_011515346.1:p.Glu728AspfsTer14
XM_011517045.1:c.1962_1965del	XP_011515347.1:p.Glu654AspfsTer14
XM_017013460.1:c.1329_1332del	XP_016868949.1:p.Glu443AspfsTer14
XM_017013462.2:c.1329_1332del	XP_016868951.1:p.Glu443AspfsTer14
XM_024447163.1:c.1962_1965del	XP_024302931.1:p.Glu654AspfsTer14
XM_024447164.1:c.1962_1965del	XP_024302932.1:p.Glu654AspfsTer14
XM_024447165.1:c.1329_1332del	XP_024302933.1:p.Glu443AspfsTer14
NM_002485.5:c.2208_2211del MANE Select	NP_002476.2:p.Glu736AspfsTer14
NM_001024688.3:c.1962_1965del	NP_001019859.1:p.Glu654AspfsTer14