Canonical Allele Identifier: CA4802897

Gene: NBN

Linked Data

• dbSNP Id: rs761749122
• ExAC: 8:90982820 TGTA / T
• gnomAD v2: 8-90982820-TGTA-T
• gnomAD v3: 8-89970592-TGTA-T
• gnomAD v4: 8-89970592-TGTA-T
• MyVariant Identifiers: chr8:g.90982821_90982823del (hg19) ; chr8:g.89970594_89970596del (hg38) ; chr8:g.89970593_89970595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970596_89970598del , CM000670.2:g.89970596_89970598del	GRCh38
NC_000008.10:g.90982824_90982826del , CM000670.1:g.90982824_90982826del	GRCh37
NC_000008.9:g.91052000_91052002del	NCBI36
NG_008860.1:g.19077_19079del , LRG_158:g.19077_19079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2005-38_2005-36del
ENST00000517337.2:c.457-38_457-36del	ENSP00000429971.2:n.457-38_457-36del
ENST00000523444.2:c.457-38_457-36del	ENSP00000428252.2:n.457-38_457-36del
ENST00000697292.1:c.703-38_703-36del	ENSP00000513229.1:n.703-38_703-36del
ENST00000697293.1:c.703-38_703-36del	ENSP00000513230.1:n.703-38_703-36del
ENST00000697294.1:c.*314-38_*314-36del	ENSP00000513231.1:n.*314-38_*314-36del
ENST00000697295.1:c.*12-38_*12-36del	ENSP00000513232.1:n.*12-38_*12-36del
ENST00000697296.1:c.*371-38_*371-36del	ENSP00000513233.1:n.*371-38_*371-36del
ENST00000697297.1:n.2488-38_2488-36del
ENST00000697298.1:c.457-38_457-36del	ENSP00000513234.1:n.457-38_457-36del
ENST00000697299.1:c.457-38_457-36del	ENSP00000513235.1:n.457-38_457-36del
ENST00000697300.1:c.*307-38_*307-36del	ENSP00000513236.1:n.*307-38_*307-36del
ENST00000697301.1:c.*224-38_*224-36del	ENSP00000513237.1:n.*224-38_*224-36del
ENST00000697302.1:c.*224-38_*224-36del	ENSP00000513238.1:n.*224-38_*224-36del
ENST00000697303.1:c.*307-38_*307-36del	ENSP00000513239.1:n.*307-38_*307-36del
ENST00000697304.1:c.585-6088_585-6086del	ENSP00000513240.1:n.585-6088_585-6086del
ENST00000697306.1:c.480+10139_480+10141del	ENSP00000513241.1:n.480+10139_480+10141del
ENST00000697307.1:c.703-38_703-36del	ENSP00000513242.1:n.703-38_703-36del
ENST00000697308.1:c.703-38_703-36del	ENSP00000513243.1:n.703-38_703-36del
ENST00000697309.1:c.703-38_703-36del	ENSP00000513244.1:n.703-38_703-36del
ENST00000697310.1:c.703-38_703-36del	ENSP00000513245.1:n.703-38_703-36del
ENST00000697311.1:c.703-38_703-36del	ENSP00000513246.1:n.703-38_703-36del
ENST00000697312.1:c.*101-38_*101-36del	ENSP00000513247.1:n.*101-38_*101-36del
ENST00000697313.1:n.2494-38_2494-36del
ENST00000697314.1:n.2494-38_2494-36del
ENST00000697315.1:c.703-38_703-36del	ENSP00000513248.1:n.703-38_703-36del
ENST00000697316.1:n.824-38_824-36del
ENST00000697317.1:n.813-38_813-36del
ENST00000697318.1:n.815-38_815-36del
ENST00000265433.8:c.703-38_703-36del MANE Select	ENSP00000265433.4:n.703-38_703-36del
ENST00000265433.7:c.703-38_703-36del	ENSP00000265433.3:n.703-38_703-36del
ENST00000396252.6:c.*576-38_*576-36del	ENSP00000379551.2:n.*576-38_*576-36del
ENST00000409330.5:c.457-38_457-36del	ENSP00000386924.1:n.457-38_457-36del
ENST00000517772.5:c.457-38_457-36del	ENSP00000428717.1:n.457-38_457-36del
ENST00000519426.5:c.439-38_439-36del	ENSP00000430983.1:n.439-38_439-36del
NM_001024688.2:c.457-38_457-36del	NP_001019859.1:n.457-38_457-36del
NM_002485.4:c.703-38_703-36del , LRG_158t1:c.703-38_703-36del	NP_002476.2:n.703-38_703-36del
XM_011517044.1:c.679-38_679-36del	XP_011515346.1:n.679-38_679-36del
XM_011517045.1:c.457-38_457-36del	XP_011515347.1:n.457-38_457-36del
XM_011517046.1:c.703-38_703-36del	XP_011515348.1:n.703-38_703-36del
XR_928335.1:n.840-38_840-36del
XM_017013460.1:c.-177-38_-177-36del	XP_016868949.1:n.-177-38_-177-36del
XM_017013462.2:c.-177-38_-177-36del	XP_016868951.1:n.-177-38_-177-36del
XM_024447163.1:c.457-38_457-36del	XP_024302931.1:n.457-38_457-36del
XM_024447164.1:c.457-38_457-36del	XP_024302932.1:n.457-38_457-36del
XM_024447165.1:c.-177-38_-177-36del	XP_024302933.1:n.-177-38_-177-36del
NM_002485.5:c.703-38_703-36del MANE Select	NP_002476.2:n.703-38_703-36del
NM_001024688.3:c.457-38_457-36del	NP_001019859.1:n.457-38_457-36del