Canonical Allele Identifier: CA583374452

Gene: NBN

Linked Data

• ClinVar Variation Id: 2918576
• ClinVar RCV Id: RCV003619124
• dbSNP Id: rs1382032181
• gnomAD v2: 8-90983387-TATAAC-T
• gnomAD v4: 8-89971159-TATAAC-T
• MyVariant Identifiers: chr8:g.90983388_90983392del (hg19) ; chr8:g.89971160_89971164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971164_89971168del , CM000670.2:g.89971164_89971168del	GRCh38
NC_000008.10:g.90983392_90983396del , CM000670.1:g.90983392_90983396del	GRCh37
NC_000008.9:g.91052568_91052572del	NCBI36
NG_008860.1:g.18508_18512del , LRG_158:g.18508_18512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2004+9_2004+13del
ENST00000517337.2:c.456+9_456+13del	ENSP00000429971.2:n.456+9_456+13del
ENST00000523444.2:c.456+9_456+13del	ENSP00000428252.2:n.456+9_456+13del
ENST00000697292.1:c.702+9_702+13del	ENSP00000513229.1:n.702+9_702+13del
ENST00000697293.1:c.702+9_702+13del	ENSP00000513230.1:n.702+9_702+13del
ENST00000697294.1:c.*313+9_*313+13del	ENSP00000513231.1:n.*313+9_*313+13del
ENST00000697295.1:c.*11+9_*11+13del	ENSP00000513232.1:n.*11+9_*11+13del
ENST00000697296.1:c.*370+9_*370+13del	ENSP00000513233.1:n.*370+9_*370+13del
ENST00000697297.1:n.2487+9_2487+13del
ENST00000697298.1:c.456+9_456+13del	ENSP00000513234.1:n.456+9_456+13del
ENST00000697299.1:c.456+9_456+13del	ENSP00000513235.1:n.456+9_456+13del
ENST00000697300.1:c.*306+9_*306+13del	ENSP00000513236.1:n.*306+9_*306+13del
ENST00000697301.1:c.*223+9_*223+13del	ENSP00000513237.1:n.*223+9_*223+13del
ENST00000697302.1:c.*223+9_*223+13del	ENSP00000513238.1:n.*223+9_*223+13del
ENST00000697303.1:c.*306+9_*306+13del	ENSP00000513239.1:n.*306+9_*306+13del
ENST00000697304.1:c.585-6657_585-6653del	ENSP00000513240.1:n.585-6657_585-6653del
ENST00000697306.1:c.480+9570_480+9574del	ENSP00000513241.1:n.480+9570_480+9574del
ENST00000697307.1:c.702+9_702+13del	ENSP00000513242.1:n.702+9_702+13del
ENST00000697308.1:c.702+9_702+13del	ENSP00000513243.1:n.702+9_702+13del
ENST00000697309.1:c.702+9_702+13del	ENSP00000513244.1:n.702+9_702+13del
ENST00000697310.1:c.702+9_702+13del	ENSP00000513245.1:n.702+9_702+13del
ENST00000697311.1:c.702+9_702+13del	ENSP00000513246.1:n.702+9_702+13del
ENST00000697312.1:c.*100+9_*100+13del	ENSP00000513247.1:n.*100+9_*100+13del
ENST00000697313.1:n.2493+9_2493+13del
ENST00000697314.1:n.2493+9_2493+13del
ENST00000697315.1:c.702+9_702+13del	ENSP00000513248.1:n.702+9_702+13del
ENST00000697316.1:n.823+9_823+13del
ENST00000697317.1:n.812+9_812+13del
ENST00000697318.1:n.814+9_814+13del
ENST00000265433.8:c.702+9_702+13del MANE Select	ENSP00000265433.4:n.702+9_702+13del
ENST00000265433.7:c.702+9_702+13del	ENSP00000265433.3:n.702+9_702+13del
ENST00000396252.6:c.*575+9_*575+13del	ENSP00000379551.2:n.*575+9_*575+13del
ENST00000409330.5:c.456+9_456+13del	ENSP00000386924.1:n.456+9_456+13del
ENST00000517772.5:c.456+9_456+13del	ENSP00000428717.1:n.456+9_456+13del
ENST00000519426.5:c.438+9_438+13del	ENSP00000430983.1:n.438+9_438+13del
NM_001024688.2:c.456+9_456+13del	NP_001019859.1:n.456+9_456+13del
NM_002485.4:c.702+9_702+13del , LRG_158t1:c.702+9_702+13del	NP_002476.2:n.702+9_702+13del
XM_011517044.1:c.678+9_678+13del	XP_011515346.1:n.678+9_678+13del
XM_011517045.1:c.456+9_456+13del	XP_011515347.1:n.456+9_456+13del
XM_011517046.1:c.702+9_702+13del	XP_011515348.1:n.702+9_702+13del
XR_928335.1:n.839+9_839+13del
XM_017013460.1:c.-178+9_-178+13del	XP_016868949.1:n.-178+9_-178+13del
XM_017013462.2:c.-178+9_-178+13del	XP_016868951.1:n.-178+9_-178+13del
XM_024447163.1:c.456+9_456+13del	XP_024302931.1:n.456+9_456+13del
XM_024447164.1:c.456+9_456+13del	XP_024302932.1:n.456+9_456+13del
XM_024447165.1:c.-178+9_-178+13del	XP_024302933.1:n.-178+9_-178+13del
NM_002485.5:c.702+9_702+13del MANE Select	NP_002476.2:n.702+9_702+13del
NM_001024688.3:c.456+9_456+13del	NP_001019859.1:n.456+9_456+13del