Canonical Allele Identifier: CA891842941

Gene: NBN

Linked Data

• ClinVar Variation Id: 578259
• ClinVar RCV Id: RCV000701215
• dbSNP Id: rs1563561699
• MyVariant Identifiers: chr8:g.90983443_90983445del (hg19) ; chr8:g.89971215_89971217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971217_89971219del , CM000670.2:g.89971217_89971219del	GRCh38
NC_000008.10:g.90983445_90983447del , CM000670.1:g.90983445_90983447del	GRCh37
NC_000008.9:g.91052621_91052623del	NCBI36
NG_008860.1:g.18455_18457del , LRG_158:g.18455_18457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1960_1962del
ENST00000517337.2:c.412_414del	ENSP00000429971.2:p.Gln138del
ENST00000523444.2:c.412_414del	ENSP00000428252.2:p.Gln138del
ENST00000697292.1:c.658_660del	ENSP00000513229.1:p.Gln220del
ENST00000697293.1:c.658_660del	ENSP00000513230.1:p.Gln220del
ENST00000697294.1:c.*269_*271del	ENSP00000513231.1:n.*269_*271del
ENST00000697295.1:c.111_113del	ENSP00000513232.1:p.Asn37del
ENST00000697296.1:c.*326_*328del	ENSP00000513233.1:n.*326_*328del
ENST00000697297.1:n.2443_2445del
ENST00000697298.1:c.412_414del	ENSP00000513234.1:p.Gln138del
ENST00000697299.1:c.412_414del	ENSP00000513235.1:p.Gln138del
ENST00000697300.1:c.*262_*264del	ENSP00000513236.1:n.*262_*264del
ENST00000697301.1:c.*179_*181del	ENSP00000513237.1:n.*179_*181del
ENST00000697302.1:c.*179_*181del	ENSP00000513238.1:n.*179_*181del
ENST00000697303.1:c.*262_*264del	ENSP00000513239.1:n.*262_*264del
ENST00000697304.1:c.585-6710_585-6708del	ENSP00000513240.1:n.585-6710_585-6708del
ENST00000697306.1:c.480+9517_480+9519del	ENSP00000513241.1:n.480+9517_480+9519del
ENST00000697307.1:c.658_660del	ENSP00000513242.1:p.Gln220del
ENST00000697308.1:c.658_660del	ENSP00000513243.1:p.Gln220del
ENST00000697309.1:c.658_660del	ENSP00000513244.1:p.Gln220del
ENST00000697310.1:c.658_660del	ENSP00000513245.1:p.Gln220del
ENST00000697311.1:c.658_660del	ENSP00000513246.1:p.Gln220del
ENST00000697312.1:c.*56_*58del	ENSP00000513247.1:n.*56_*58del
ENST00000697313.1:n.2449_2451del
ENST00000697314.1:n.2449_2451del
ENST00000697315.1:c.658_660del	ENSP00000513248.1:p.Gln220del
ENST00000697316.1:n.779_781del
ENST00000697317.1:n.768_770del
ENST00000697318.1:n.770_772del
ENST00000265433.8:c.658_660del MANE Select	ENSP00000265433.4:p.Gln220del
ENST00000265433.7:c.658_660del	ENSP00000265433.3:p.Gln220del
ENST00000396252.6:c.*531_*533del	ENSP00000379551.2:n.*531_*533del
ENST00000409330.5:c.412_414del	ENSP00000386924.1:p.Gln138del
ENST00000517772.5:c.412_414del	ENSP00000428717.1:p.Gln138del
ENST00000519426.5:c.394_396del	ENSP00000430983.1:p.Gln132del
NM_001024688.2:c.412_414del	NP_001019859.1:p.Gln138del
NM_002485.4:c.658_660del , LRG_158t1:c.658_660del	NP_002476.2:p.Gln220del
XM_011517044.1:c.634_636del	XP_011515346.1:p.Gln212del
XM_011517045.1:c.412_414del	XP_011515347.1:p.Gln138del
XM_011517046.1:c.658_660del	XP_011515348.1:p.Gln220del
XR_928335.1:n.795_797del
XM_017013460.1:c.-222_-220del	XP_016868949.1:n.-222_-220del
XM_017013462.2:c.-222_-220del	XP_016868951.1:n.-222_-220del
XM_024447163.1:c.412_414del	XP_024302931.1:p.Gln138del
XM_024447164.1:c.412_414del	XP_024302932.1:p.Gln138del
XM_024447165.1:c.-222_-220del	XP_024302933.1:n.-222_-220del
NM_002485.5:c.658_660del MANE Select	NP_002476.2:p.Gln220del
NM_001024688.3:c.412_414del	NP_001019859.1:p.Gln138del