Canonical Allele Identifier: CA278581

Gene: NBN

Linked Data

• ClinVar Variation Id: 6943
• ClinVar RCV Id: RCV000007357 ; RCV003343598
• dbSNP Id: rs864309669
• MyVariant Identifiers: chr8:g.90982646dupA (hg19) ; chr8:g.90982645_90982646insA (hg19) ; chr8:g.89970418dupA (hg38) ; chr8:g.89970417_89970418insA (hg38)
• PubMed: PMID:9590180 ; PMID:20301355

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970419dup , CM000670.2:g.89970419dup	GRCh38
NC_000008.10:g.90982647dup , CM000670.1:g.90982647dup	GRCh37
NC_000008.9:g.91051823dup	NCBI36
NG_008860.1:g.19254dup , LRG_158:g.19254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2144dup
ENST00000517337.2:c.596dup	ENSP00000429971.2:p.Leu199PhefsTer4
ENST00000523444.2:c.596dup	ENSP00000428252.2:p.Leu199PhefsTer4
ENST00000697292.1:c.842dup	ENSP00000513229.1:p.Leu281PhefsTer4
ENST00000697293.1:c.842dup	ENSP00000513230.1:p.Leu281PhefsTer4
ENST00000697294.1:c.*453dup	ENSP00000513231.1:n.*453dup
ENST00000697295.1:c.*151dup	ENSP00000513232.1:n.*151dup
ENST00000697296.1:c.*510dup	ENSP00000513233.1:n.*510dup
ENST00000697297.1:n.2627dup
ENST00000697298.1:c.596dup	ENSP00000513234.1:p.Leu199PhefsTer4
ENST00000697299.1:c.596dup	ENSP00000513235.1:p.Leu199PhefsTer4
ENST00000697300.1:c.*446dup	ENSP00000513236.1:n.*446dup
ENST00000697301.1:c.*363dup	ENSP00000513237.1:n.*363dup
ENST00000697302.1:c.*363dup	ENSP00000513238.1:n.*363dup
ENST00000697303.1:c.*446dup	ENSP00000513239.1:n.*446dup
ENST00000697304.1:c.585-5911dup	ENSP00000513240.1:n.585-5911dup
ENST00000697306.1:c.480+10316dup	ENSP00000513241.1:n.480+10316dup
ENST00000697307.1:c.842dup	ENSP00000513242.1:p.Leu281PhefsTer4
ENST00000697308.1:c.842dup	ENSP00000513243.1:p.Leu281PhefsTer4
ENST00000697309.1:c.842dup	ENSP00000513244.1:p.Leu281PhefsTer4
ENST00000697310.1:c.842dup	ENSP00000513245.1:p.Leu281PhefsTer4
ENST00000697311.1:c.842dup	ENSP00000513246.1:p.Leu281PhefsTer4
ENST00000697312.1:c.*240dup	ENSP00000513247.1:n.*240dup
ENST00000697313.1:n.2633dup
ENST00000697314.1:n.2633dup
ENST00000697315.1:c.842dup	ENSP00000513248.1:p.Leu281PhefsTer4
ENST00000697316.1:n.963dup
ENST00000697317.1:n.952dup
ENST00000697318.1:n.954dup
ENST00000265433.8:c.842dup MANE Select	ENSP00000265433.4:p.Leu281PhefsTer4
ENST00000265433.7:c.842dup	ENSP00000265433.3:p.Leu281PhefsTer4
ENST00000396252.6:c.*715dup	ENSP00000379551.2:n.*715dup
ENST00000409330.5:c.596dup	ENSP00000386924.1:p.Leu199PhefsTer4
NM_001024688.2:c.596dup	NP_001019859.1:p.Leu199PhefsTer4
NM_002485.4:c.842dup , LRG_158t1:c.842dup	NP_002476.2:p.Leu281PhefsTer4
XM_011517044.1:c.818dup	XP_011515346.1:p.Leu273PhefsTer4
XM_011517045.1:c.596dup	XP_011515347.1:p.Leu199PhefsTer4
XM_011517046.1:c.842dup	XP_011515348.1:p.Leu281PhefsTer4
XR_928335.1:n.979dup
XM_017013460.1:c.-38dup	XP_016868949.1:n.-38dup
XM_017013462.2:c.-38dup	XP_016868951.1:n.-38dup
XM_024447163.1:c.596dup	XP_024302931.1:p.Leu199PhefsTer4
XM_024447164.1:c.596dup	XP_024302932.1:p.Leu199PhefsTer4
XM_024447165.1:c.-38dup	XP_024302933.1:n.-38dup
NM_002485.5:c.842dup MANE Select	NP_002476.2:p.Leu281PhefsTer4
NM_001024688.3:c.596dup	NP_001019859.1:p.Leu199PhefsTer4