Canonical Allele Identifier: CA2580079074

Gene: NBN

Linked Data

• ClinVar Variation Id: 1712047
• ClinVar RCV Id: RCV002293765

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953598_89953624del , CM000670.2:g.89953598_89953624del	GRCh38
NC_000008.10:g.90965826_90965852del , CM000670.1:g.90965826_90965852del	GRCh37
NC_000008.9:g.91035002_91035028del	NCBI36
NG_008860.1:g.36049_36075del , LRG_158:g.36049_36075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2768_2794del
ENST00000517337.2:c.1220_1246del	ENSP00000429971.2:p.Leu407_Thr415del
ENST00000523444.2:c.1220_1246del	ENSP00000428252.2:p.Leu407_Thr415del
ENST00000697292.1:c.1466_1492del	ENSP00000513229.1:p.Leu489_Thr497del
ENST00000697293.1:c.1466_1492del	ENSP00000513230.1:p.Leu489_Thr497del
ENST00000697294.1:c.*1077_*1103del	ENSP00000513231.1:n.*1077_*1103del
ENST00000697295.1:c.*775_*801del	ENSP00000513232.1:n.*775_*801del
ENST00000697296.1:c.*1134_*1160del	ENSP00000513233.1:n.*1134_*1160del
ENST00000697297.1:n.3251_3277del
ENST00000697298.1:c.1220_1246del	ENSP00000513234.1:p.Leu407_Thr415del
ENST00000697299.1:c.1220_1246del	ENSP00000513235.1:p.Leu407_Thr415del
ENST00000697300.1:c.*1070_*1096del	ENSP00000513236.1:n.*1070_*1096del
ENST00000697301.1:c.*987_*1013del	ENSP00000513237.1:n.*987_*1013del
ENST00000697302.1:c.*987_*1013del	ENSP00000513238.1:n.*987_*1013del
ENST00000697303.1:c.*1070_*1096del	ENSP00000513239.1:n.*1070_*1096del
ENST00000697304.1:c.1154_1180del	ENSP00000513240.1:p.Leu385_Thr393del
ENST00000697306.1:c.*466_*492del	ENSP00000513241.1:n.*466_*492del
ENST00000697307.1:c.1466_1492del	ENSP00000513242.1:p.Leu489_Thr497del
ENST00000697308.1:c.1466_1492del	ENSP00000513243.1:p.Leu489_Thr497del
ENST00000697309.1:c.1466_1492del	ENSP00000513244.1:p.Leu489_Thr497del
ENST00000697310.1:c.1466_1492del	ENSP00000513245.1:p.Leu489_Thr497del
ENST00000697311.1:c.1466_1492del	ENSP00000513246.1:p.Leu489_Thr497del
ENST00000697312.1:c.*864_*890del	ENSP00000513247.1:n.*864_*890del
ENST00000697313.1:n.2687+16741_2687+16767del
ENST00000697314.1:n.3257_3283del
ENST00000697315.1:c.1466_1492del	ENSP00000513248.1:p.Leu489_Thr497del
ENST00000697316.1:n.1587_1613del
ENST00000697317.1:n.1576_1602del
ENST00000697318.1:n.1578_1604del
ENST00000265433.8:c.1466_1492del MANE Select	ENSP00000265433.4:p.Leu489_Thr497del
ENST00000265433.7:c.1466_1492del	ENSP00000265433.3:p.Leu489_Thr497del
ENST00000396252.6:c.*1339_*1365del	ENSP00000379551.2:n.*1339_*1365del
ENST00000409330.5:c.1220_1246del	ENSP00000386924.1:p.Leu407_Thr415del
NM_001024688.2:c.1220_1246del	NP_001019859.1:p.Leu407_Thr415del
NM_002485.4:c.1466_1492del , LRG_158t1:c.1466_1492del	NP_002476.2:p.Leu489_Thr497del
XM_011517044.1:c.1442_1468del	XP_011515346.1:p.Leu481_Thr489del
XM_011517045.1:c.1220_1246del	XP_011515347.1:p.Leu407_Thr415del
XR_928335.1:n.1605_1631del
XM_017013460.1:c.587_613del	XP_016868949.1:p.Leu196_Thr204del
XM_017013462.2:c.587_613del	XP_016868951.1:p.Leu196_Thr204del
XM_024447163.1:c.1220_1246del	XP_024302931.1:p.Leu407_Thr415del
XM_024447164.1:c.1220_1246del	XP_024302932.1:p.Leu407_Thr415del
XM_024447165.1:c.587_613del	XP_024302933.1:p.Leu196_Thr204del
NM_002485.5:c.1466_1492del MANE Select	NP_002476.2:p.Leu489_Thr497del
NM_001024688.3:c.1220_1246del	NP_001019859.1:p.Leu407_Thr415del