Canonical Allele Identifier: CA2573143455

Gene: NBN

Linked Data

• ClinVar Variation Id: 1393646
• ClinVar RCV Id: RCV001884586
• dbSNP Id: rs2129915884

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89981484_89981491del , CM000670.2:g.89981484_89981491del	GRCh38
NC_000008.10:g.90993712_90993719del , CM000670.1:g.90993712_90993719del	GRCh37
NC_000008.9:g.91062888_91062895del	NCBI36
NG_008860.1:g.8182_8189del , LRG_158:g.8182_8189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1507_1514del
ENST00000517337.2:c.-42_-35del	ENSP00000429971.2:n.-42_-35del
ENST00000523444.2:c.-42_-35del	ENSP00000428252.2:n.-42_-35del
ENST00000697292.1:c.205_212del	ENSP00000513229.1:p.Lys69PhefsTer2
ENST00000697293.1:c.205_212del	ENSP00000513230.1:p.Lys69PhefsTer2
ENST00000697294.1:c.205_212del	ENSP00000513231.1:p.Lys69PhefsTer2
ENST00000697295.1:c.37+3035_37+3042del	ENSP00000513232.1:n.37+3035_37+3042del
ENST00000697296.1:c.172-597_172-590del	ENSP00000513233.1:n.172-597_172-590del
ENST00000697297.1:n.1509_1516del
ENST00000697298.1:c.-42_-35del	ENSP00000513234.1:n.-42_-35del
ENST00000697299.1:c.-42_-35del	ENSP00000513235.1:n.-42_-35del
ENST00000697300.1:c.-42_-35del	ENSP00000513236.1:n.-42_-35del
ENST00000697301.1:c.-42_-35del	ENSP00000513237.1:n.-42_-35del
ENST00000697302.1:c.205_212del	ENSP00000513238.1:p.Lys69PhefsTer2
ENST00000697303.1:c.205_212del	ENSP00000513239.1:p.Lys69PhefsTer2
ENST00000697304.1:c.205_212del	ENSP00000513240.1:p.Lys69PhefsTer2
ENST00000697306.1:c.205_212del	ENSP00000513241.1:p.Lys69PhefsTer2
ENST00000697307.1:c.205_212del	ENSP00000513242.1:p.Lys69PhefsTer2
ENST00000697308.1:c.205_212del	ENSP00000513243.1:p.Lys69PhefsTer2
ENST00000697309.1:c.205_212del	ENSP00000513244.1:p.Lys69PhefsTer2
ENST00000697310.1:c.205_212del	ENSP00000513245.1:p.Lys69PhefsTer2
ENST00000697311.1:c.205_212del	ENSP00000513246.1:p.Lys69PhefsTer2
ENST00000697312.1:c.205_212del	ENSP00000513247.1:p.Lys69PhefsTer2
ENST00000697313.1:n.1515_1522del
ENST00000697314.1:n.1515_1522del
ENST00000697315.1:c.205_212del	ENSP00000513248.1:p.Lys69PhefsTer2
ENST00000697316.1:n.326_333del
ENST00000697317.1:n.315_322del
ENST00000697318.1:n.317_324del
ENST00000265433.8:c.205_212del MANE Select	ENSP00000265433.4:p.Lys69PhefsTer2
ENST00000265433.7:c.205_212del	ENSP00000265433.3:p.Lys69PhefsTer2
ENST00000396252.6:c.*78_*85del	ENSP00000379551.2:n.*78_*85del
ENST00000409330.5:c.-42_-35del	ENSP00000386924.1:n.-42_-35del
ENST00000517337.1:c.-42_-35del	ENSP00000429971.1:n.-42_-35del
ENST00000517772.5:c.-42_-35del	ENSP00000428717.1:n.-42_-35del
ENST00000519426.5:c.205_212del	ENSP00000430983.1:p.Lys69PhefsTer2
ENST00000523444.1:c.*78_*85del	ENSP00000428252.1:n.*78_*85del
NM_001024688.2:c.-42_-35del	NP_001019859.1:n.-42_-35del
NM_002485.4:c.205_212del , LRG_158t1:c.205_212del	NP_002476.2:p.Lys69PhefsTer2
XM_011517044.1:c.181_188del	XP_011515346.1:p.Lys61PhefsTer2
XM_011517045.1:c.-42_-35del	XP_011515347.1:n.-42_-35del
XM_011517046.1:c.205_212del	XP_011515348.1:p.Lys69PhefsTer2
XR_928335.1:n.342_349del
XM_017013460.1:c.-765_-758del	XP_016868949.1:n.-765_-758del
XM_017013462.2:c.-571_-564del	XP_016868951.1:n.-571_-564del
XM_024447163.1:c.-42_-35del	XP_024302931.1:n.-42_-35del
XM_024447164.1:c.-42_-35del	XP_024302932.1:n.-42_-35del
XM_024447165.1:c.-765_-758del	XP_024302933.1:n.-765_-758del
NM_002485.5:c.205_212del MANE Select	NP_002476.2:p.Lys69PhefsTer2
NM_001024688.3:c.-42_-35del	NP_001019859.1:n.-42_-35del