Canonical Allele Identifier: CA4802947

Gene: NBN

Linked Data

• ClinVar Variation Id: 530724
• ClinVar RCV Id: RCV000636716
• dbSNP Id: rs758830069
• ExAC: 8:90990519 AATTGGACGTCCACAAAT / A
• gnomAD v2: 8-90990519-AATTGGACGTCCACAAAT-A
• MyVariant Identifiers: chr8:g.90990520_90990536del (hg19) ; chr8:g.89978292_89978308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978292_89978308del , CM000670.2:g.89978292_89978308del	GRCh38
NC_000008.10:g.90990520_90990536del , CM000670.1:g.90990520_90990536del	GRCh37
NC_000008.9:g.91059696_91059712del	NCBI36
NG_008860.1:g.11364_11380del , LRG_158:g.11364_11380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1798_1814del
ENST00000517337.2:c.250_266del	ENSP00000429971.2:p.Ile84CysfsTer8
ENST00000523444.2:c.250_266del	ENSP00000428252.2:p.Ile84CysfsTer8
ENST00000697292.1:c.496_512del	ENSP00000513229.1:p.Ile166CysfsTer8
ENST00000697293.1:c.496_512del	ENSP00000513230.1:p.Ile166CysfsTer8
ENST00000697294.1:c.*107_*123del	ENSP00000513231.1:n.*107_*123del
ENST00000697295.1:c.37+6217_37+6233del	ENSP00000513232.1:n.37+6217_37+6233del
ENST00000697296.1:c.*164_*180del	ENSP00000513233.1:n.*164_*180del
ENST00000697297.1:n.2281_2297del
ENST00000697298.1:c.250_266del	ENSP00000513234.1:p.Ile84CysfsTer8
ENST00000697299.1:c.250_266del	ENSP00000513235.1:p.Ile84CysfsTer8
ENST00000697300.1:c.*100_*116del	ENSP00000513236.1:n.*100_*116del
ENST00000697301.1:c.*17_*33del	ENSP00000513237.1:n.*17_*33del
ENST00000697302.1:c.*17_*33del	ENSP00000513238.1:n.*17_*33del
ENST00000697303.1:c.*100_*116del	ENSP00000513239.1:n.*100_*116del
ENST00000697304.1:c.496_512del	ENSP00000513240.1:p.Ile166CysfsTer8
ENST00000697306.1:c.480+2426_480+2442del	ENSP00000513241.1:n.480+2426_480+2442del
ENST00000697307.1:c.496_512del	ENSP00000513242.1:p.Ile166CysfsTer8
ENST00000697308.1:c.496_512del	ENSP00000513243.1:p.Ile166CysfsTer8
ENST00000697309.1:c.496_512del	ENSP00000513244.1:p.Ile166CysfsTer8
ENST00000697310.1:c.496_512del	ENSP00000513245.1:p.Ile166CysfsTer8
ENST00000697311.1:c.496_512del	ENSP00000513246.1:p.Ile166CysfsTer8
ENST00000697312.1:c.480+2426_480+2442del	ENSP00000513247.1:n.480+2426_480+2442del
ENST00000697313.1:n.2287_2303del
ENST00000697314.1:n.2287_2303del
ENST00000697315.1:c.496_512del	ENSP00000513248.1:p.Ile166CysfsTer8
ENST00000697316.1:n.617_633del
ENST00000697317.1:n.606_622del
ENST00000697318.1:n.608_624del
ENST00000265433.8:c.496_512del MANE Select	ENSP00000265433.4:p.Ile166CysfsTer8
ENST00000265433.7:c.496_512del	ENSP00000265433.3:p.Ile166CysfsTer8
ENST00000396252.6:c.*369_*385del	ENSP00000379551.2:n.*369_*385del
ENST00000409330.5:c.250_266del	ENSP00000386924.1:p.Ile84CysfsTer8
ENST00000517337.1:c.250_266del	ENSP00000429971.1:p.Ile84CysfsTer?
ENST00000517772.5:c.250_266del	ENSP00000428717.1:p.Ile84CysfsTer8
ENST00000519426.5:c.320+3067_320+3083del	ENSP00000430983.1:n.320+3067_320+3083del
ENST00000523444.1:c.*328_*344del	ENSP00000428252.1:n.*328_*344del
NM_001024688.2:c.250_266del	NP_001019859.1:p.Ile84CysfsTer8
NM_002485.4:c.496_512del , LRG_158t1:c.496_512del	NP_002476.2:p.Ile166CysfsTer8
XM_011517044.1:c.472_488del	XP_011515346.1:p.Ile158CysfsTer8
XM_011517045.1:c.250_266del	XP_011515347.1:p.Ile84CysfsTer8
XM_011517046.1:c.496_512del	XP_011515348.1:p.Ile166CysfsTer8
XR_928335.1:n.633_649del
XM_017013460.1:c.-384_-368del	XP_016868949.1:n.-384_-368del
XM_017013462.2:c.-296+2426_-296+2442del	XP_016868951.1:n.-296+2426_-296+2442del
XM_024447163.1:c.250_266del	XP_024302931.1:p.Ile84CysfsTer8
XM_024447164.1:c.250_266del	XP_024302932.1:p.Ile84CysfsTer8
XM_024447165.1:c.-384_-368del	XP_024302933.1:n.-384_-368del
NM_002485.5:c.496_512del MANE Select	NP_002476.2:p.Ile166CysfsTer8
NM_001024688.3:c.250_266del	NP_001019859.1:p.Ile84CysfsTer8