Canonical Allele Identifier: CA2580079179

Gene: NBN

Linked Data

• ClinVar Variation Id: 1737742
• ClinVar RCV Id: RCV002323232

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980789_89980810del , CM000670.2:g.89980789_89980810del	GRCh38
NC_000008.10:g.90993017_90993038del , CM000670.1:g.90993017_90993038del	GRCh37
NC_000008.9:g.91062193_91062214del	NCBI36
NG_008860.1:g.8867_8888del , LRG_158:g.8867_8888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1711_1732del
ENST00000517337.2:c.163_184del	ENSP00000429971.2:p.Gly55GlnfsTer12
ENST00000523444.2:c.163_184del	ENSP00000428252.2:p.Gly55GlnfsTer12
ENST00000697292.1:c.409_430del	ENSP00000513229.1:p.Gly137GlnfsTer12
ENST00000697293.1:c.409_430del	ENSP00000513230.1:p.Gly137GlnfsTer12
ENST00000697294.1:c.368_389del	ENSP00000513231.1:p.Arg123ThrfsTer19
ENST00000697295.1:c.37+3720_37+3741del	ENSP00000513232.1:n.37+3720_37+3741del
ENST00000697296.1:c.*77_*98del	ENSP00000513233.1:n.*77_*98del
ENST00000697297.1:n.2194_2215del
ENST00000697298.1:c.163_184del	ENSP00000513234.1:p.Gly55GlnfsTer12
ENST00000697299.1:c.163_184del	ENSP00000513235.1:p.Gly55GlnfsTer12
ENST00000697300.1:c.163_184del	ENSP00000513236.1:p.Gly55GlnfsTer12
ENST00000697301.1:c.122_143del	ENSP00000513237.1:p.Arg41ThrfsTer?
ENST00000697302.1:c.368_389del	ENSP00000513238.1:p.Arg123ThrfsTer?
ENST00000697303.1:c.409_430del	ENSP00000513239.1:p.Gly137GlnfsTer12
ENST00000697304.1:c.409_430del	ENSP00000513240.1:p.Gly137GlnfsTer12
ENST00000697306.1:c.409_430del	ENSP00000513241.1:p.Gly137GlnfsTer12
ENST00000697307.1:c.409_430del	ENSP00000513242.1:p.Gly137GlnfsTer12
ENST00000697308.1:c.409_430del	ENSP00000513243.1:p.Gly137GlnfsTer12
ENST00000697309.1:c.409_430del	ENSP00000513244.1:p.Gly137GlnfsTer12
ENST00000697310.1:c.409_430del	ENSP00000513245.1:p.Gly137GlnfsTer12
ENST00000697311.1:c.409_430del	ENSP00000513246.1:p.Gly137GlnfsTer12
ENST00000697312.1:c.409_430del	ENSP00000513247.1:p.Gly137GlnfsTer12
ENST00000697313.1:n.2200_2221del
ENST00000697314.1:n.2200_2221del
ENST00000697315.1:c.409_430del	ENSP00000513248.1:p.Gly137GlnfsTer12
ENST00000697316.1:n.530_551del
ENST00000697317.1:n.519_540del
ENST00000697318.1:n.521_542del
ENST00000265433.8:c.409_430del MANE Select	ENSP00000265433.4:p.Gly137GlnfsTer12
ENST00000265433.7:c.409_430del	ENSP00000265433.3:p.Gly137GlnfsTer12
ENST00000396252.6:c.*282_*303del	ENSP00000379551.2:n.*282_*303del
ENST00000409330.5:c.163_184del	ENSP00000386924.1:p.Gly55GlnfsTer12
ENST00000517337.1:c.163_184del	ENSP00000429971.1:p.Gly55GlnfsTer12
ENST00000517772.5:c.163_184del	ENSP00000428717.1:p.Gly55GlnfsTer12
ENST00000519426.5:c.320+570_320+591del	ENSP00000430983.1:n.320+570_320+591del
ENST00000523444.1:c.*241_*262del	ENSP00000428252.1:n.*241_*262del
NM_001024688.2:c.163_184del	NP_001019859.1:p.Gly55GlnfsTer12
NM_002485.4:c.409_430del , LRG_158t1:c.409_430del	NP_002476.2:p.Gly137GlnfsTer12
XM_011517044.1:c.385_406del	XP_011515346.1:p.Gly129GlnfsTer12
XM_011517045.1:c.163_184del	XP_011515347.1:p.Gly55GlnfsTer12
XM_011517046.1:c.409_430del	XP_011515348.1:p.Gly137GlnfsTer12
XR_928335.1:n.546_567del
XM_017013460.1:c.-561_-540del	XP_016868949.1:n.-561_-540del
XM_017013462.2:c.-367_-346del	XP_016868951.1:n.-367_-346del
XM_024447163.1:c.163_184del	XP_024302931.1:p.Gly55GlnfsTer12
XM_024447164.1:c.163_184del	XP_024302932.1:p.Gly55GlnfsTer12
XM_024447165.1:c.-561_-540del	XP_024302933.1:n.-561_-540del
NM_002485.5:c.409_430del MANE Select	NP_002476.2:p.Gly137GlnfsTer12
NM_001024688.3:c.163_184del	NP_001019859.1:p.Gly55GlnfsTer12