Canonical Allele Identifier: CA4802697

Gene: NBN

Linked Data

• ClinVar Variation Id: 371069
• ClinVar RCV Id: RCV000412165 ; RCV002402097
• dbSNP Id: rs776417262
• ExAC: 8:90965676 TG / T
• gnomAD v2: 8-90965676-TG-T
• gnomAD v4: 8-89953448-TG-T
• MyVariant Identifiers: chr8:g.90965677del (hg19) ; chr8:g.89953449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953449del , CM000670.2:g.89953449del	GRCh38
NC_000008.10:g.90965677del , CM000670.1:g.90965677del	GRCh37
NC_000008.9:g.91034853del	NCBI36
NG_008860.1:g.36223del , LRG_158:g.36223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2942del
ENST00000517337.2:c.1394del	ENSP00000429971.2:p.Ser465Ter
ENST00000523444.2:c.1394del	ENSP00000428252.2:p.Ser465Ter
ENST00000697292.1:c.1640del	ENSP00000513229.1:p.Ser547Ter
ENST00000697293.1:c.1640del	ENSP00000513230.1:p.Ser547Ter
ENST00000697294.1:c.*1251del	ENSP00000513231.1:n.*1251del
ENST00000697295.1:c.*949del	ENSP00000513232.1:n.*949del
ENST00000697296.1:c.*1308del	ENSP00000513233.1:n.*1308del
ENST00000697297.1:n.3425del
ENST00000697298.1:c.1394del	ENSP00000513234.1:p.Ser465Ter
ENST00000697299.1:c.1394del	ENSP00000513235.1:p.Ser465Ter
ENST00000697300.1:c.*1244del	ENSP00000513236.1:n.*1244del
ENST00000697301.1:c.*1161del	ENSP00000513237.1:n.*1161del
ENST00000697302.1:c.*1161del	ENSP00000513238.1:n.*1161del
ENST00000697303.1:c.*1244del	ENSP00000513239.1:n.*1244del
ENST00000697304.1:c.1328del	ENSP00000513240.1:p.Ser443Ter
ENST00000697306.1:c.*640del	ENSP00000513241.1:n.*640del
ENST00000697307.1:c.1640del	ENSP00000513242.1:p.Ser547Ter
ENST00000697308.1:c.1640del	ENSP00000513243.1:p.Ser547Ter
ENST00000697309.1:c.1640del	ENSP00000513244.1:p.Ser547Ter
ENST00000697310.1:c.1640del	ENSP00000513245.1:p.Ser547Ter
ENST00000697311.1:c.1640del	ENSP00000513246.1:p.Ser547Ter
ENST00000697312.1:c.*1038del	ENSP00000513247.1:n.*1038del
ENST00000697313.1:n.2687+16915del
ENST00000697314.1:n.3431del
ENST00000697315.1:c.1640del	ENSP00000513248.1:p.Ser547Ter
ENST00000697316.1:n.1761del
ENST00000697317.1:n.1750del
ENST00000697318.1:n.1752del
ENST00000265433.8:c.1640del MANE Select	ENSP00000265433.4:p.Ser547Ter
ENST00000265433.7:c.1640del	ENSP00000265433.3:p.Ser547Ter
ENST00000396252.6:c.*1513del	ENSP00000379551.2:n.*1513del
ENST00000409330.5:c.1394del	ENSP00000386924.1:p.Ser465Ter
NM_001024688.2:c.1394del	NP_001019859.1:p.Ser465Ter
NM_002485.4:c.1640del , LRG_158t1:c.1640del	NP_002476.2:p.Ser547Ter
XM_011517044.1:c.1616del	XP_011515346.1:p.Ser539Ter
XM_011517045.1:c.1394del	XP_011515347.1:p.Ser465Ter
XR_928335.1:n.1779del
XM_017013460.1:c.761del	XP_016868949.1:p.Ser254Ter
XM_017013462.2:c.761del	XP_016868951.1:p.Ser254Ter
XM_024447163.1:c.1394del	XP_024302931.1:p.Ser465Ter
XM_024447164.1:c.1394del	XP_024302932.1:p.Ser465Ter
XM_024447165.1:c.761del	XP_024302933.1:p.Ser254Ter
NM_002485.5:c.1640del MANE Select	NP_002476.2:p.Ser547Ter
NM_001024688.3:c.1394del	NP_001019859.1:p.Ser465Ter