Canonical Allele Identifier: CA299574

Gene: NBN

Linked Data

• ClinVar Variation Id: 182702
• ClinVar RCV Id: RCV000160766 ; RCV000258971 ; RCV001226188 ; RCV003467257
• dbSNP Id: rs730881839
• MyVariant Identifiers: chr8:g.90982671dupT (hg19) ; chr8:g.90982670_90982671insT (hg19) ; chr8:g.89970443dupT (hg38) ; chr8:g.89970442_89970443insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970443dup , CM000670.2:g.89970443dup	GRCh38
NC_000008.10:g.90982671dup , CM000670.1:g.90982671dup	GRCh37
NC_000008.9:g.91051847dup	NCBI36
NG_008860.1:g.19229dup , LRG_158:g.19229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2119dup
ENST00000517337.2:c.571dup	ENSP00000429971.2:p.Thr191AsnfsTer12
ENST00000523444.2:c.571dup	ENSP00000428252.2:p.Thr191AsnfsTer12
ENST00000697292.1:c.817dup	ENSP00000513229.1:p.Thr273AsnfsTer12
ENST00000697293.1:c.817dup	ENSP00000513230.1:p.Thr273AsnfsTer12
ENST00000697294.1:c.*428dup	ENSP00000513231.1:n.*428dup
ENST00000697295.1:c.*126dup	ENSP00000513232.1:n.*126dup
ENST00000697296.1:c.*485dup	ENSP00000513233.1:n.*485dup
ENST00000697297.1:n.2602dup
ENST00000697298.1:c.571dup	ENSP00000513234.1:p.Thr191AsnfsTer12
ENST00000697299.1:c.571dup	ENSP00000513235.1:p.Thr191AsnfsTer12
ENST00000697300.1:c.*421dup	ENSP00000513236.1:n.*421dup
ENST00000697301.1:c.*338dup	ENSP00000513237.1:n.*338dup
ENST00000697302.1:c.*338dup	ENSP00000513238.1:n.*338dup
ENST00000697303.1:c.*421dup	ENSP00000513239.1:n.*421dup
ENST00000697304.1:c.585-5936dup	ENSP00000513240.1:n.585-5936dup
ENST00000697306.1:c.480+10291dup	ENSP00000513241.1:n.480+10291dup
ENST00000697307.1:c.817dup	ENSP00000513242.1:p.Thr273AsnfsTer12
ENST00000697308.1:c.817dup	ENSP00000513243.1:p.Thr273AsnfsTer12
ENST00000697309.1:c.817dup	ENSP00000513244.1:p.Thr273AsnfsTer12
ENST00000697310.1:c.817dup	ENSP00000513245.1:p.Thr273AsnfsTer12
ENST00000697311.1:c.817dup	ENSP00000513246.1:p.Thr273AsnfsTer12
ENST00000697312.1:c.*215dup	ENSP00000513247.1:n.*215dup
ENST00000697313.1:n.2608dup
ENST00000697314.1:n.2608dup
ENST00000697315.1:c.817dup	ENSP00000513248.1:p.Thr273AsnfsTer12
ENST00000697316.1:n.938dup
ENST00000697317.1:n.927dup
ENST00000697318.1:n.929dup
ENST00000265433.8:c.817dup MANE Select	ENSP00000265433.4:p.Thr273AsnfsTer12
ENST00000265433.7:c.817dup	ENSP00000265433.3:p.Thr273AsnfsTer12
ENST00000396252.6:c.*690dup	ENSP00000379551.2:n.*690dup
ENST00000409330.5:c.571dup	ENSP00000386924.1:p.Thr191AsnfsTer12
NM_001024688.2:c.571dup	NP_001019859.1:p.Thr191AsnfsTer12
NM_002485.4:c.817dup , LRG_158t1:c.817dup	NP_002476.2:p.Thr273AsnfsTer12
XM_011517044.1:c.793dup	XP_011515346.1:p.Thr265AsnfsTer12
XM_011517045.1:c.571dup	XP_011515347.1:p.Thr191AsnfsTer12
XM_011517046.1:c.817dup	XP_011515348.1:p.Thr273AsnfsTer12
XR_928335.1:n.954dup
XM_017013460.1:c.-63dup	XP_016868949.1:n.-63dup
XM_017013462.2:c.-63dup	XP_016868951.1:n.-63dup
XM_024447163.1:c.571dup	XP_024302931.1:p.Thr191AsnfsTer12
XM_024447164.1:c.571dup	XP_024302932.1:p.Thr191AsnfsTer12
XM_024447165.1:c.-63dup	XP_024302933.1:n.-63dup
NM_002485.5:c.817dup MANE Select	NP_002476.2:p.Thr273AsnfsTer12
NM_001024688.3:c.571dup	NP_001019859.1:p.Thr191AsnfsTer12