Canonical Allele Identifier: CA1801471082

Gene: NBN

Linked Data

• dbSNP Id: rs1812243561

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984555_89984556insGCGCGCAGCAGTTT , CM000670.2:g.89984555_89984556insGCGCGCAGCAGTTT	GRCh38
NC_000008.10:g.90996783_90996784insGCGCGCAGCAGTTT , CM000670.1:g.90996783_90996784insGCGCGCAGCAGTTT	GRCh37
NC_000008.9:g.91065959_91065960insGCGCGCAGCAGTTT	NCBI36
NG_008860.1:g.5126_5127insGCGCAAACTGCTGC , LRG_158:g.5126_5127insGCGCAAACTGCTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.120_121insGCGCAAACTGCTGC
ENST00000523444.2:c.-281_-280insGCGCAAACTGCTGC	ENSP00000428252.2:n.-281_-280insGCGCAAACTGCTGC
ENST00000697292.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513229.1:p.Pro6ArgfsTer19
ENST00000697293.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513230.1:p.Pro6ArgfsTer19
ENST00000697294.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513231.1:p.Pro6ArgfsTer19
ENST00000697295.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513232.1:p.Pro6ArgfsTer18
ENST00000697296.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513233.1:p.Pro6ArgfsTer19
ENST00000697297.1:n.122_123insGCGCAAACTGCTGC
ENST00000697298.1:c.-464_-463insGCGCAAACTGCTGC	ENSP00000513234.1:n.-464_-463insGCGCAAACTGCTGC
ENST00000697299.1:c.-97_-96insGCGCAAACTGCTGC	ENSP00000513235.1:n.-97_-96insGCGCAAACTGCTGC
ENST00000697300.1:c.-281_-280insGCGCAAACTGCTGC	ENSP00000513236.1:n.-281_-280insGCGCAAACTGCTGC
ENST00000697301.1:c.-281_-280insGCGCAAACTGCTGC	ENSP00000513237.1:n.-281_-280insGCGCAAACTGCTGC
ENST00000697302.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513238.1:p.Pro6ArgfsTer19
ENST00000697303.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513239.1:p.Pro6ArgfsTer19
ENST00000697304.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513240.1:p.Pro6ArgfsTer19
ENST00000697306.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513241.1:p.Pro6ArgfsTer19
ENST00000697307.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513242.1:p.Pro6ArgfsTer19
ENST00000697308.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513243.1:p.Pro6ArgfsTer19
ENST00000697309.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513244.1:p.Pro6ArgfsTer19
ENST00000697310.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513245.1:p.Pro6ArgfsTer19
ENST00000697311.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513246.1:p.Pro6ArgfsTer19
ENST00000697312.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513247.1:p.Pro6ArgfsTer19
ENST00000697313.1:n.128_129insGCGCAAACTGCTGC
ENST00000697314.1:n.128_129insGCGCAAACTGCTGC
ENST00000697315.1:c.16_17insGCGCAAACTGCTGC	ENSP00000513248.1:p.Pro6ArgfsTer19
ENST00000697316.1:n.137_138insGCGCAAACTGCTGC
ENST00000697317.1:n.126_127insGCGCAAACTGCTGC
ENST00000697318.1:n.128_129insGCGCAAACTGCTGC
ENST00000265433.8:c.16_17insGCGCAAACTGCTGC MANE Select	ENSP00000265433.4:p.Pro6ArgfsTer19
ENST00000265433.7:c.16_17insGCGCAAACTGCTGC	ENSP00000265433.3:p.Pro6ArgfsTer19
ENST00000396252.6:c.16_17insGCGCAAACTGCTGC	ENSP00000379551.2:p.Pro6ArgfsTer19
ENST00000494804.1:n.120_121insGCGCAAACTGCTGC
ENST00000519426.5:c.16_17insGCGCAAACTGCTGC	ENSP00000430983.1:p.Pro6ArgfsTer19
ENST00000523444.1:c.16_17insGCGCAAACTGCTGC	ENSP00000428252.1:p.Pro6ArgfsTer19
NM_001024688.2:c.-281_-280insGCGCAAACTGCTGC	NP_001019859.1:n.-281_-280insGCGCAAACTGCTGC
NM_002485.4:c.16_17insGCGCAAACTGCTGC , LRG_158t1:c.16_17insGCGCAAACTGCTGC	NP_002476.2:p.Pro6ArgfsTer19
XM_011517046.1:c.16_17insGCGCAAACTGCTGC	XP_011515348.1:p.Pro6ArgfsTer19
XR_928335.1:n.153_154insGCGCAAACTGCTGC
XM_017013460.1:c.-1004_-1003insGCGCAAACTGCTGC	XP_016868949.1:n.-1004_-1003insGCGCAAACTGCTGC
XM_017013462.2:c.-810_-809insGCGCAAACTGCTGC	XP_016868951.1:n.-810_-809insGCGCAAACTGCTGC
XM_024447165.1:c.-954_-953insGCGCAAACTGCTGC	XP_024302933.1:n.-954_-953insGCGCAAACTGCTGC
NM_002485.5:c.16_17insGCGCAAACTGCTGC MANE Select	NP_002476.2:p.Pro6ArgfsTer19
NM_001024688.3:c.-281_-280insGCGCAAACTGCTGC	NP_001019859.1:n.-281_-280insGCGCAAACTGCTGC