Canonical Allele Identifier: CA197421
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 187348
dbSNP Id: rs786203662

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89971290_89971291delinsG , CM000670.2:g.89971290_89971291delinsG GRCh38
NC_000008.10:g.90983518_90983519delinsG , CM000670.1:g.90983518_90983519delinsG GRCh37
NC_000008.9:g.91052694_91052695delinsG NCBI36
NG_008860.1:g.18381_18382delinsC , LRG_158:g.18381_18382delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000494804.2:n.1887-1_1887delinsC
ENST00000517337.2:c.339-1_339delinsC
ENST00000523444.2:c.339-1_339delinsC
ENST00000697292.1:c.585-1_585delinsC
ENST00000697293.1:c.585-1_585delinsC
ENST00000697294.1:c.*196-1_*196delinsC
ENST00000697295.1:c.38-1_38delinsC
ENST00000697296.1:c.*253-1_*253delinsC
ENST00000697297.1:n.2370-1_2370delinsC
ENST00000697298.1:c.339-1_339delinsC
ENST00000697299.1:c.339-1_339delinsC
ENST00000697300.1:c.*189-1_*189delinsC
ENST00000697301.1:c.*106-1_*106delinsC
ENST00000697302.1:c.*106-1_*106delinsC
ENST00000697303.1:c.*189-1_*189delinsC
ENST00000697304.1:c.585-6784_585-6783delinsC ENSP00000513240.1:n.585-6784_585-6783deli...
ENST00000697306.1:c.480+9443_480+9444delinsC ENSP00000513241.1:n.480+9443_480+9444deli...
ENST00000697307.1:c.585-1_585delinsC
ENST00000697308.1:c.585-1_585delinsC
ENST00000697309.1:c.585-1_585delinsC
ENST00000697310.1:c.585-1_585delinsC
ENST00000697311.1:c.585-1_585delinsC
ENST00000697312.1:c.481-1_481delinsC
ENST00000697313.1:n.2376-1_2376delinsC
ENST00000697314.1:n.2376-1_2376delinsC
ENST00000697315.1:c.585-1_585delinsC
ENST00000697316.1:n.706-1_706delinsC
ENST00000697317.1:n.695-1_695delinsC
ENST00000697318.1:n.697-1_697delinsC
ENST00000265433.8:c.585-1_585delinsC
ENST00000265433.7:c.585-1_585delinsC
ENST00000396252.6:c.*458-1_*458delinsC
ENST00000409330.5:c.339-1_339delinsC
ENST00000517772.5:c.339-1_339delinsC
ENST00000519426.5:c.321-1_321delinsC
NM_001024688.2:c.339-1_339delinsC
NM_002485.4:c.585-1_585delinsC , LRG_158t1:c.585-1_585delinsC
XM_011517044.1:c.561-1_561delinsC
XM_011517045.1:c.339-1_339delinsC
XM_011517046.1:c.585-1_585delinsC
XR_928335.1:n.722-1_722delinsC
XM_017013460.1:c.-295-1_-295delinsC
XM_017013462.2:c.-295-1_-295delinsC
XM_024447163.1:c.339-1_339delinsC
XM_024447164.1:c.339-1_339delinsC
XM_024447165.1:c.-295-1_-295delinsC
NM_002485.5:c.585-1_585delinsC
NM_001024688.3:c.339-1_339delinsC