Canonical Allele Identifier: CA2580079021

Gene: NBN

Linked Data

• ClinVar Variation Id: 1786168
• ClinVar RCV Id: RCV002417545

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943322dup , CM000670.2:g.89943322dup	GRCh38
NC_000008.10:g.90955550dup , CM000670.1:g.90955550dup	GRCh37
NC_000008.9:g.91024726dup	NCBI36
NG_008860.1:g.46350dup , LRG_158:g.46350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3417dup
ENST00000517337.2:c.1869dup	ENSP00000429971.2:p.Ser624IlefsTer?
ENST00000523444.2:c.1869dup	ENSP00000428252.2:p.Ser624IlefsTer?
ENST00000697292.1:c.2115dup	ENSP00000513229.1:p.Ser706IlefsTer?
ENST00000697293.1:c.2115dup	ENSP00000513230.1:p.Ser706IlefsTer?
ENST00000697294.1:c.*1726dup	ENSP00000513231.1:n.*1726dup
ENST00000697295.1:c.*1424dup	ENSP00000513232.1:n.*1424dup
ENST00000697296.1:c.*1783dup	ENSP00000513233.1:n.*1783dup
ENST00000697297.1:n.3900dup
ENST00000697298.1:c.1869dup	ENSP00000513234.1:p.Ser624IlefsTer?
ENST00000697299.1:c.1869dup	ENSP00000513235.1:p.Ser624IlefsTer?
ENST00000697300.1:c.*1719dup	ENSP00000513236.1:n.*1719dup
ENST00000697301.1:c.*1636dup	ENSP00000513237.1:n.*1636dup
ENST00000697302.1:c.*1636dup	ENSP00000513238.1:n.*1636dup
ENST00000697303.1:c.*1719dup	ENSP00000513239.1:n.*1719dup
ENST00000697304.1:c.1803dup	ENSP00000513240.1:p.Ser602IlefsTer?
ENST00000697305.1:n.2382dup
ENST00000697306.1:c.*2666dup	ENSP00000513241.1:n.*2666dup
ENST00000697307.1:c.1890dup	ENSP00000513242.1:p.Ser631IlefsTer?
ENST00000697308.1:c.2046dup	ENSP00000513243.1:p.Ser683IlefsTer?
ENST00000697309.1:c.2115dup	ENSP00000513244.1:p.Ser706IlefsTer29
ENST00000697310.1:c.2115dup	ENSP00000513245.1:p.Ser706IlefsTer?
ENST00000697311.1:c.2115dup	ENSP00000513246.1:p.Ser706IlefsTer25
ENST00000697312.1:c.*1513dup	ENSP00000513247.1:n.*1513dup
ENST00000697313.1:n.2688-7710dup
ENST00000697314.1:n.3637-7710dup
ENST00000697315.1:c.2115dup	ENSP00000513248.1:p.Ser706IlefsTer?
ENST00000697316.1:n.2236dup
ENST00000265433.8:c.2115dup MANE Select	ENSP00000265433.4:p.Ser706IlefsTer?
ENST00000265433.7:c.2115dup	ENSP00000265433.3:p.Ser706IlefsTer?
ENST00000396252.6:c.*1988dup	ENSP00000379551.2:n.*1988dup
ENST00000409330.5:c.1869dup	ENSP00000386924.1:p.Ser624IlefsTer?
ENST00000613033.1:c.225dup	ENSP00000484487.1:p.Ser76IlefsTer?
NM_001024688.2:c.1869dup	NP_001019859.1:p.Ser624IlefsTer?
NM_002485.4:c.2115dup , LRG_158t1:c.2115dup	NP_002476.2:p.Ser706IlefsTer?
XM_011517044.1:c.2091dup	XP_011515346.1:p.Ser698IlefsTer?
XM_011517045.1:c.1869dup	XP_011515347.1:p.Ser624IlefsTer?
XM_017013460.1:c.1236dup	XP_016868949.1:p.Ser413IlefsTer?
XM_017013462.2:c.1236dup	XP_016868951.1:p.Ser413IlefsTer?
XM_024447163.1:c.1869dup	XP_024302931.1:p.Ser624IlefsTer?
XM_024447164.1:c.1869dup	XP_024302932.1:p.Ser624IlefsTer?
XM_024447165.1:c.1236dup	XP_024302933.1:p.Ser413IlefsTer?
NM_002485.5:c.2115dup MANE Select	NP_002476.2:p.Ser706IlefsTer?
NM_001024688.3:c.1869dup	NP_001019859.1:p.Ser624IlefsTer?