Canonical Allele Identifier: CA2580617192

Gene: NBN

Linked Data

• ClinVar Variation Id: 2566727
• ClinVar RCV Id: RCV003278163

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971147_89971232dup , CM000670.2:g.89971147_89971232dup	GRCh38
NC_000008.10:g.90983375_90983460dup , CM000670.1:g.90983375_90983460dup	GRCh37
NC_000008.9:g.91052551_91052636dup	NCBI36
NG_008860.1:g.18441_18526dup , LRG_158:g.18441_18526dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1946_2004+27dup
ENST00000517337.2:c.398_456+27dup
ENST00000523444.2:c.398_456+27dup
ENST00000697292.1:c.644_702+27dup
ENST00000697293.1:c.644_702+27dup
ENST00000697294.1:c.*255_*313+27dup
ENST00000697295.1:c.97_*11+27dup
ENST00000697296.1:c.*312_*370+27dup
ENST00000697297.1:n.2429_2487+27dup
ENST00000697298.1:c.398_456+27dup
ENST00000697299.1:c.398_456+27dup
ENST00000697300.1:c.*248_*306+27dup
ENST00000697301.1:c.*165_*223+27dup
ENST00000697302.1:c.*165_*223+27dup
ENST00000697303.1:c.*248_*306+27dup
ENST00000697304.1:c.585-6724_585-6639dup	ENSP00000513240.1:n.585-6724_585-6639dup
ENST00000697306.1:c.480+9503_480+9588dup	ENSP00000513241.1:n.480+9503_480+9588dup
ENST00000697307.1:c.644_702+27dup
ENST00000697308.1:c.644_702+27dup
ENST00000697309.1:c.644_702+27dup
ENST00000697310.1:c.644_702+27dup
ENST00000697311.1:c.644_702+27dup
ENST00000697312.1:c.*42_*100+27dup
ENST00000697313.1:n.2435_2493+27dup
ENST00000697314.1:n.2435_2493+27dup
ENST00000697315.1:c.644_702+27dup
ENST00000697316.1:n.765_823+27dup
ENST00000697317.1:n.754_812+27dup
ENST00000697318.1:n.756_814+27dup
ENST00000265433.8:c.644_702+27dup
ENST00000265433.7:c.644_702+27dup
ENST00000396252.6:c.*517_*575+27dup
ENST00000409330.5:c.398_456+27dup
ENST00000517772.5:c.398_456+27dup
ENST00000519426.5:c.380_438+27dup
NM_001024688.2:c.398_456+27dup
NM_002485.4:c.644_702+27dup , LRG_158t1:c.644_702+27dup
XM_011517044.1:c.620_678+27dup
XM_011517045.1:c.398_456+27dup
XM_011517046.1:c.644_702+27dup
XR_928335.1:n.781_839+27dup
XM_017013460.1:c.-236_-178+27dup
XM_017013462.2:c.-236_-178+27dup
XM_024447163.1:c.398_456+27dup
XM_024447164.1:c.398_456+27dup
XM_024447165.1:c.-236_-178+27dup
NM_002485.5:c.644_702+27dup
NM_001024688.3:c.398_456+27dup