Canonical Allele Identifier: CA181280259

Gene: NBN

Linked Data

• dbSNP Id: rs957067154
• gnomAD v2: 8-90992882-T-TA
• gnomAD v3: 8-89980654-T-TA
• gnomAD v4: 8-89980654-T-TA
• MyVariant Identifiers: chr8:g.90992883_90992884insA (hg19) ; chr8:g.90992882_90992883insA (hg19) ; chr8:g.89980655_89980656insA (hg38) ; chr8:g.89980654_89980655insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980663dup , CM000670.2:g.89980663dup	GRCh38
NC_000008.10:g.90992891dup , CM000670.1:g.90992891dup	GRCh37
NC_000008.9:g.91062067dup	NCBI36
NG_008860.1:g.9017dup , LRG_158:g.9017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1782+79dup
ENST00000517337.2:c.234+79dup	ENSP00000429971.2:n.234+79dup
ENST00000523444.2:c.234+79dup	ENSP00000428252.2:n.234+79dup
ENST00000697292.1:c.480+79dup	ENSP00000513229.1:n.480+79dup
ENST00000697293.1:c.480+79dup	ENSP00000513230.1:n.480+79dup
ENST00000697294.1:c.*1+79dup	ENSP00000513231.1:n.*1+79dup
ENST00000697295.1:c.37+3870dup	ENSP00000513232.1:n.37+3870dup
ENST00000697296.1:c.*148+79dup	ENSP00000513233.1:n.*148+79dup
ENST00000697297.1:n.2265+79dup
ENST00000697298.1:c.234+79dup	ENSP00000513234.1:n.234+79dup
ENST00000697299.1:c.234+79dup	ENSP00000513235.1:n.234+79dup
ENST00000697300.1:c.234+79dup	ENSP00000513236.1:n.234+79dup
ENST00000697301.1:c.*1+79dup	ENSP00000513237.1:n.*1+79dup
ENST00000697302.1:c.*1+79dup	ENSP00000513238.1:n.*1+79dup
ENST00000697303.1:c.480+79dup	ENSP00000513239.1:n.480+79dup
ENST00000697304.1:c.480+79dup	ENSP00000513240.1:n.480+79dup
ENST00000697306.1:c.480+79dup	ENSP00000513241.1:n.480+79dup
ENST00000697307.1:c.480+79dup	ENSP00000513242.1:n.480+79dup
ENST00000697308.1:c.480+79dup	ENSP00000513243.1:n.480+79dup
ENST00000697309.1:c.480+79dup	ENSP00000513244.1:n.480+79dup
ENST00000697310.1:c.480+79dup	ENSP00000513245.1:n.480+79dup
ENST00000697311.1:c.480+79dup	ENSP00000513246.1:n.480+79dup
ENST00000697312.1:c.480+79dup	ENSP00000513247.1:n.480+79dup
ENST00000697313.1:n.2271+79dup
ENST00000697314.1:n.2271+79dup
ENST00000697315.1:c.480+79dup	ENSP00000513248.1:n.480+79dup
ENST00000697316.1:n.601+79dup
ENST00000697317.1:n.590+79dup
ENST00000697318.1:n.592+79dup
ENST00000265433.8:c.480+79dup MANE Select	ENSP00000265433.4:n.480+79dup
ENST00000265433.7:c.480+79dup	ENSP00000265433.3:n.480+79dup
ENST00000396252.6:c.*353+79dup	ENSP00000379551.2:n.*353+79dup
ENST00000409330.5:c.234+79dup	ENSP00000386924.1:n.234+79dup
ENST00000517337.1:c.234+79dup	ENSP00000429971.1:n.234+79dup
ENST00000517772.5:c.234+79dup	ENSP00000428717.1:n.234+79dup
ENST00000519426.5:c.320+720dup	ENSP00000430983.1:n.320+720dup
ENST00000523444.1:c.*312+79dup	ENSP00000428252.1:n.*312+79dup
NM_001024688.2:c.234+79dup	NP_001019859.1:n.234+79dup
NM_002485.4:c.480+79dup , LRG_158t1:c.480+79dup	NP_002476.2:n.480+79dup
XM_011517044.1:c.456+79dup	XP_011515346.1:n.456+79dup
XM_011517045.1:c.234+79dup	XP_011515347.1:n.234+79dup
XM_011517046.1:c.480+79dup	XP_011515348.1:n.480+79dup
XR_928335.1:n.617+79dup
XM_017013460.1:c.-490+79dup	XP_016868949.1:n.-490+79dup
XM_017013462.2:c.-296+79dup	XP_016868951.1:n.-296+79dup
XM_024447163.1:c.234+79dup	XP_024302931.1:n.234+79dup
XM_024447164.1:c.234+79dup	XP_024302932.1:n.234+79dup
XM_024447165.1:c.-490+79dup	XP_024302933.1:n.-490+79dup
NM_002485.5:c.480+79dup MANE Select	NP_002476.2:n.480+79dup
NM_001024688.3:c.234+79dup	NP_001019859.1:n.234+79dup