Canonical Allele Identifier: CA4802658

Gene: NBN

Linked Data

• ClinVar Variation Id: 422452
• ClinVar RCV Id: RCV000478298 ; RCV000774550 ; RCV002063799
• dbSNP Id: rs773894616
• ExAC: 8:90960030 AAATT / A
• gnomAD v2: 8-90960030-AAATT-A
• gnomAD v4: 8-89947802-AAATT-A
• MyVariant Identifiers: chr8:g.90960031_90960034del (hg19) ; chr8:g.89947803_89947806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947806_89947809del , CM000670.2:g.89947806_89947809del	GRCh38
NC_000008.10:g.90960034_90960037del , CM000670.1:g.90960034_90960037del	GRCh37
NC_000008.9:g.91029210_91029213del	NCBI36
NG_008860.1:g.41866_41869del , LRG_158:g.41866_41869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3216+18_3216+21del
ENST00000517337.2:c.1668+18_1668+21del	ENSP00000429971.2:n.1668+18_1668+21del
ENST00000523444.2:c.1668+18_1668+21del	ENSP00000428252.2:n.1668+18_1668+21del
ENST00000697292.1:c.1914+18_1914+21del	ENSP00000513229.1:n.1914+18_1914+21del
ENST00000697293.1:c.1914+18_1914+21del	ENSP00000513230.1:n.1914+18_1914+21del
ENST00000697294.1:c.*1525+18_*1525+21del	ENSP00000513231.1:n.*1525+18_*1525+21del
ENST00000697295.1:c.*1223+18_*1223+21del	ENSP00000513232.1:n.*1223+18_*1223+21del
ENST00000697296.1:c.*1582+18_*1582+21del	ENSP00000513233.1:n.*1582+18_*1582+21del
ENST00000697297.1:n.3699+18_3699+21del
ENST00000697298.1:c.1668+18_1668+21del	ENSP00000513234.1:n.1668+18_1668+21del
ENST00000697299.1:c.1668+18_1668+21del	ENSP00000513235.1:n.1668+18_1668+21del
ENST00000697300.1:c.*1518+18_*1518+21del	ENSP00000513236.1:n.*1518+18_*1518+21del
ENST00000697301.1:c.*1435+18_*1435+21del	ENSP00000513237.1:n.*1435+18_*1435+21del
ENST00000697302.1:c.*1435+18_*1435+21del	ENSP00000513238.1:n.*1435+18_*1435+21del
ENST00000697303.1:c.*1518+18_*1518+21del	ENSP00000513239.1:n.*1518+18_*1518+21del
ENST00000697304.1:c.1602+18_1602+21del	ENSP00000513240.1:n.1602+18_1602+21del
ENST00000697306.1:c.*955_*958del	ENSP00000513241.1:n.*955_*958del
ENST00000697307.1:c.1846-4440_1846-4437del	ENSP00000513242.1:n.1846-4440_1846-4437del
ENST00000697308.1:c.1846-1511_1846-1508del	ENSP00000513243.1:n.1846-1511_1846-1508del
ENST00000697309.1:c.1914+18_1914+21del	ENSP00000513244.1:n.1914+18_1914+21del
ENST00000697310.1:c.1914+18_1914+21del	ENSP00000513245.1:n.1914+18_1914+21del
ENST00000697311.1:c.1914+18_1914+21del	ENSP00000513246.1:n.1914+18_1914+21del
ENST00000697312.1:c.*1312+18_*1312+21del	ENSP00000513247.1:n.*1312+18_*1312+21del
ENST00000697313.1:n.2688-12194_2688-12191del
ENST00000697314.1:n.3636+5438_3636+5441del
ENST00000697315.1:c.1914+18_1914+21del	ENSP00000513248.1:n.1914+18_1914+21del
ENST00000697316.1:n.2035+18_2035+21del
ENST00000697317.1:n.2005+37_2005+40del
ENST00000265433.8:c.1914+18_1914+21del MANE Select	ENSP00000265433.4:n.1914+18_1914+21del
ENST00000265433.7:c.1914+18_1914+21del	ENSP00000265433.3:n.1914+18_1914+21del
ENST00000396252.6:c.*1787+18_*1787+21del	ENSP00000379551.2:n.*1787+18_*1787+21del
ENST00000409330.5:c.1668+18_1668+21del	ENSP00000386924.1:n.1668+18_1668+21del
ENST00000613033.1:c.180+18_180+21del	ENSP00000484487.1:n.180+18_180+21del
NM_001024688.2:c.1668+18_1668+21del	NP_001019859.1:n.1668+18_1668+21del
NM_002485.4:c.1914+18_1914+21del , LRG_158t1:c.1914+18_1914+21del	NP_002476.2:n.1914+18_1914+21del
XM_011517044.1:c.1890+18_1890+21del	XP_011515346.1:n.1890+18_1890+21del
XM_011517045.1:c.1668+18_1668+21del	XP_011515347.1:n.1668+18_1668+21del
XR_928335.1:n.2053+18_2053+21del
XM_017013460.1:c.1035+18_1035+21del	XP_016868949.1:n.1035+18_1035+21del
XM_017013462.2:c.1035+18_1035+21del	XP_016868951.1:n.1035+18_1035+21del
XM_024447163.1:c.1668+18_1668+21del	XP_024302931.1:n.1668+18_1668+21del
XM_024447164.1:c.1668+18_1668+21del	XP_024302932.1:n.1668+18_1668+21del
XM_024447165.1:c.1035+18_1035+21del	XP_024302933.1:n.1035+18_1035+21del
NM_002485.5:c.1914+18_1914+21del MANE Select	NP_002476.2:n.1914+18_1914+21del
NM_001024688.3:c.1668+18_1668+21del	NP_001019859.1:n.1668+18_1668+21del