Canonical Allele Identifier: CA2695201510

Gene: NBN

Linked Data

• ClinVar Variation Id: 2676961
• ClinVar RCV Id: RCV003470311

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984550_89984551del , CM000670.2:g.89984550_89984551del	GRCh38
NC_000008.10:g.90996778_90996779del , CM000670.1:g.90996778_90996779del	GRCh37
NC_000008.9:g.91065954_91065955del	NCBI36
NG_008860.1:g.5121_5122del , LRG_158:g.5121_5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.115_116del
ENST00000523444.2:c.-286_-285del	ENSP00000428252.2:n.-286_-285del
ENST00000697292.1:c.11_12del	ENSP00000513229.1:p.Leu4ProfsTer19
ENST00000697293.1:c.11_12del	ENSP00000513230.1:p.Leu4ProfsTer19
ENST00000697294.1:c.11_12del	ENSP00000513231.1:p.Leu4ProfsTer19
ENST00000697295.1:c.11_12del	ENSP00000513232.1:p.Leu4ProfsTer?
ENST00000697296.1:c.11_12del	ENSP00000513233.1:p.Leu4ProfsTer19
ENST00000697297.1:n.117_118del
ENST00000697298.1:c.-469_-468del	ENSP00000513234.1:n.-469_-468del
ENST00000697299.1:c.-102_-101del	ENSP00000513235.1:n.-102_-101del
ENST00000697300.1:c.-286_-285del	ENSP00000513236.1:n.-286_-285del
ENST00000697301.1:c.-286_-285del	ENSP00000513237.1:n.-286_-285del
ENST00000697302.1:c.11_12del	ENSP00000513238.1:p.Leu4ProfsTer19
ENST00000697303.1:c.11_12del	ENSP00000513239.1:p.Leu4ProfsTer19
ENST00000697304.1:c.11_12del	ENSP00000513240.1:p.Leu4ProfsTer19
ENST00000697306.1:c.11_12del	ENSP00000513241.1:p.Leu4ProfsTer19
ENST00000697307.1:c.11_12del	ENSP00000513242.1:p.Leu4ProfsTer19
ENST00000697308.1:c.11_12del	ENSP00000513243.1:p.Leu4ProfsTer19
ENST00000697309.1:c.11_12del	ENSP00000513244.1:p.Leu4ProfsTer19
ENST00000697310.1:c.11_12del	ENSP00000513245.1:p.Leu4ProfsTer19
ENST00000697311.1:c.11_12del	ENSP00000513246.1:p.Leu4ProfsTer19
ENST00000697312.1:c.11_12del	ENSP00000513247.1:p.Leu4ProfsTer19
ENST00000697313.1:n.123_124del
ENST00000697314.1:n.123_124del
ENST00000697315.1:c.11_12del	ENSP00000513248.1:p.Leu4ProfsTer19
ENST00000697316.1:n.132_133del
ENST00000697317.1:n.121_122del
ENST00000697318.1:n.123_124del
ENST00000265433.8:c.11_12del MANE Select	ENSP00000265433.4:p.Leu4ProfsTer19
ENST00000265433.7:c.11_12del	ENSP00000265433.3:p.Leu4ProfsTer19
ENST00000396252.6:c.11_12del	ENSP00000379551.2:p.Leu4ProfsTer19
ENST00000494804.1:n.115_116del
ENST00000519426.5:c.11_12del	ENSP00000430983.1:p.Leu4ProfsTer19
ENST00000523444.1:c.11_12del	ENSP00000428252.1:p.Leu4ProfsTer19
NM_001024688.2:c.-286_-285del	NP_001019859.1:n.-286_-285del
NM_002485.4:c.11_12del , LRG_158t1:c.11_12del	NP_002476.2:p.Leu4ProfsTer19
XM_011517046.1:c.11_12del	XP_011515348.1:p.Leu4ProfsTer19
XR_928335.1:n.148_149del
XM_017013460.1:c.-1009_-1008del	XP_016868949.1:n.-1009_-1008del
XM_017013462.2:c.-815_-814del	XP_016868951.1:n.-815_-814del
XM_024447165.1:c.-959_-958del	XP_024302933.1:n.-959_-958del
NM_002485.5:c.11_12del MANE Select	NP_002476.2:p.Leu4ProfsTer19
NM_001024688.3:c.-286_-285del	NP_001019859.1:n.-286_-285del