Canonical Allele Identifier: CA915945795

Gene: NBN

Linked Data

• ClinVar Variation Id: 753465
• ClinVar RCV Id: RCV000930708
• dbSNP Id: rs1586101102

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978214_89978216del , CM000670.2:g.89978214_89978216del	GRCh38
NC_000008.10:g.90990442_90990444del , CM000670.1:g.90990442_90990444del	GRCh37
NC_000008.9:g.91059618_91059620del	NCBI36
NG_008860.1:g.11459_11461del , LRG_158:g.11459_11461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1886+7_1886+9del
ENST00000517337.2:c.338+7_338+9del	ENSP00000429971.2:n.338+7_338+9del
ENST00000523444.2:c.338+7_338+9del	ENSP00000428252.2:n.338+7_338+9del
ENST00000697292.1:c.584+7_584+9del	ENSP00000513229.1:n.584+7_584+9del
ENST00000697293.1:c.584+7_584+9del	ENSP00000513230.1:n.584+7_584+9del
ENST00000697294.1:c.*195+7_*195+9del	ENSP00000513231.1:n.*195+7_*195+9del
ENST00000697295.1:c.37+6312_37+6314del	ENSP00000513232.1:n.37+6312_37+6314del
ENST00000697296.1:c.*252+7_*252+9del	ENSP00000513233.1:n.*252+7_*252+9del
ENST00000697297.1:n.2369+7_2369+9del
ENST00000697298.1:c.338+7_338+9del	ENSP00000513234.1:n.338+7_338+9del
ENST00000697299.1:c.338+7_338+9del	ENSP00000513235.1:n.338+7_338+9del
ENST00000697300.1:c.*188+7_*188+9del	ENSP00000513236.1:n.*188+7_*188+9del
ENST00000697301.1:c.*105+7_*105+9del	ENSP00000513237.1:n.*105+7_*105+9del
ENST00000697302.1:c.*105+7_*105+9del	ENSP00000513238.1:n.*105+7_*105+9del
ENST00000697303.1:c.*188+7_*188+9del	ENSP00000513239.1:n.*188+7_*188+9del
ENST00000697304.1:c.584+7_584+9del	ENSP00000513240.1:n.584+7_584+9del
ENST00000697306.1:c.480+2521_480+2523del	ENSP00000513241.1:n.480+2521_480+2523del
ENST00000697307.1:c.584+7_584+9del	ENSP00000513242.1:n.584+7_584+9del
ENST00000697308.1:c.584+7_584+9del	ENSP00000513243.1:n.584+7_584+9del
ENST00000697309.1:c.584+7_584+9del	ENSP00000513244.1:n.584+7_584+9del
ENST00000697310.1:c.584+7_584+9del	ENSP00000513245.1:n.584+7_584+9del
ENST00000697311.1:c.584+7_584+9del	ENSP00000513246.1:n.584+7_584+9del
ENST00000697312.1:c.480+2521_480+2523del	ENSP00000513247.1:n.480+2521_480+2523del
ENST00000697313.1:n.2375+7_2375+9del
ENST00000697314.1:n.2375+7_2375+9del
ENST00000697315.1:c.584+7_584+9del	ENSP00000513248.1:n.584+7_584+9del
ENST00000697316.1:n.705+7_705+9del
ENST00000697317.1:n.694+7_694+9del
ENST00000697318.1:n.696+7_696+9del
ENST00000265433.8:c.584+7_584+9del MANE Select	ENSP00000265433.4:n.584+7_584+9del
ENST00000265433.7:c.584+7_584+9del	ENSP00000265433.3:n.584+7_584+9del
ENST00000396252.6:c.*457+7_*457+9del	ENSP00000379551.2:n.*457+7_*457+9del
ENST00000409330.5:c.338+7_338+9del	ENSP00000386924.1:n.338+7_338+9del
ENST00000517772.5:c.338+7_338+9del	ENSP00000428717.1:n.338+7_338+9del
ENST00000519426.5:c.320+3162_320+3164del	ENSP00000430983.1:n.320+3162_320+3164del
NM_001024688.2:c.338+7_338+9del	NP_001019859.1:n.338+7_338+9del
NM_002485.4:c.584+7_584+9del , LRG_158t1:c.584+7_584+9del	NP_002476.2:n.584+7_584+9del
XM_011517044.1:c.560+7_560+9del	XP_011515346.1:n.560+7_560+9del
XM_011517045.1:c.338+7_338+9del	XP_011515347.1:n.338+7_338+9del
XM_011517046.1:c.584+7_584+9del	XP_011515348.1:n.584+7_584+9del
XR_928335.1:n.721+7_721+9del
XM_017013460.1:c.-296+7_-296+9del	XP_016868949.1:n.-296+7_-296+9del
XM_017013462.2:c.-296+2521_-296+2523del	XP_016868951.1:n.-296+2521_-296+2523del
XM_024447163.1:c.338+7_338+9del	XP_024302931.1:n.338+7_338+9del
XM_024447164.1:c.338+7_338+9del	XP_024302932.1:n.338+7_338+9del
XM_024447165.1:c.-296+7_-296+9del	XP_024302933.1:n.-296+7_-296+9del
NM_002485.5:c.584+7_584+9del MANE Select	NP_002476.2:n.584+7_584+9del
NM_001024688.3:c.338+7_338+9del	NP_001019859.1:n.338+7_338+9del