Canonical Allele Identifier: CA583375873

Gene: NBN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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