Canonical Allele Identifier: CA658823270

Gene: NBN

Linked Data

• ClinVar Variation Id: 545860
• ClinVar RCV Id: RCV000657440 ; RCV001800841
• dbSNP Id: rs1554563955
• gnomAD v4: 8-89970459-T-TC
• MyVariant Identifiers: chr8:g.90982688dup (hg19) ; chr8:g.89970460dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970462dup , CM000670.2:g.89970462dup	GRCh38
NC_000008.10:g.90982690dup , CM000670.1:g.90982690dup	GRCh37
NC_000008.9:g.91051866dup	NCBI36
NG_008860.1:g.19212dup , LRG_158:g.19212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2102dup
ENST00000517337.2:c.554dup	ENSP00000429971.2:p.Thr186AsnfsTer5
ENST00000523444.2:c.554dup	ENSP00000428252.2:p.Thr186AsnfsTer5
ENST00000697292.1:c.800dup	ENSP00000513229.1:p.Thr268AsnfsTer5
ENST00000697293.1:c.800dup	ENSP00000513230.1:p.Thr268AsnfsTer5
ENST00000697294.1:c.*411dup	ENSP00000513231.1:n.*411dup
ENST00000697295.1:c.*109dup	ENSP00000513232.1:n.*109dup
ENST00000697296.1:c.*468dup	ENSP00000513233.1:n.*468dup
ENST00000697297.1:n.2585dup
ENST00000697298.1:c.554dup	ENSP00000513234.1:p.Thr186AsnfsTer5
ENST00000697299.1:c.554dup	ENSP00000513235.1:p.Thr186AsnfsTer5
ENST00000697300.1:c.*404dup	ENSP00000513236.1:n.*404dup
ENST00000697301.1:c.*321dup	ENSP00000513237.1:n.*321dup
ENST00000697302.1:c.*321dup	ENSP00000513238.1:n.*321dup
ENST00000697303.1:c.*404dup	ENSP00000513239.1:n.*404dup
ENST00000697304.1:c.585-5953dup	ENSP00000513240.1:n.585-5953dup
ENST00000697306.1:c.480+10274dup	ENSP00000513241.1:n.480+10274dup
ENST00000697307.1:c.800dup	ENSP00000513242.1:p.Thr268AsnfsTer5
ENST00000697308.1:c.800dup	ENSP00000513243.1:p.Thr268AsnfsTer5
ENST00000697309.1:c.800dup	ENSP00000513244.1:p.Thr268AsnfsTer5
ENST00000697310.1:c.800dup	ENSP00000513245.1:p.Thr268AsnfsTer5
ENST00000697311.1:c.800dup	ENSP00000513246.1:p.Thr268AsnfsTer5
ENST00000697312.1:c.*198dup	ENSP00000513247.1:n.*198dup
ENST00000697313.1:n.2591dup
ENST00000697314.1:n.2591dup
ENST00000697315.1:c.800dup	ENSP00000513248.1:p.Thr268AsnfsTer5
ENST00000697316.1:n.921dup
ENST00000697317.1:n.910dup
ENST00000697318.1:n.912dup
ENST00000265433.8:c.800dup MANE Select	ENSP00000265433.4:p.Thr268AsnfsTer5
ENST00000265433.7:c.800dup	ENSP00000265433.3:p.Thr268AsnfsTer5
ENST00000396252.6:c.*673dup	ENSP00000379551.2:n.*673dup
ENST00000409330.5:c.554dup	ENSP00000386924.1:p.Thr186AsnfsTer5
NM_001024688.2:c.554dup	NP_001019859.1:p.Thr186AsnfsTer5
NM_002485.4:c.800dup , LRG_158t1:c.800dup	NP_002476.2:p.Thr268AsnfsTer5
XM_011517044.1:c.776dup	XP_011515346.1:p.Thr260AsnfsTer5
XM_011517045.1:c.554dup	XP_011515347.1:p.Thr186AsnfsTer5
XM_011517046.1:c.800dup	XP_011515348.1:p.Thr268AsnfsTer5
XR_928335.1:n.937dup
XM_017013460.1:c.-80dup	XP_016868949.1:n.-80dup
XM_017013462.2:c.-80dup	XP_016868951.1:n.-80dup
XM_024447163.1:c.554dup	XP_024302931.1:p.Thr186AsnfsTer5
XM_024447164.1:c.554dup	XP_024302932.1:p.Thr186AsnfsTer5
XM_024447165.1:c.-80dup	XP_024302933.1:n.-80dup
NM_002485.5:c.800dup MANE Select	NP_002476.2:p.Thr268AsnfsTer5
NM_001024688.3:c.554dup	NP_001019859.1:p.Thr186AsnfsTer5