Canonical Allele Identifier: CA583377192

Gene: NBN

Linked Data

• ClinVar Variation Id: 1075847
• ClinVar RCV Id: RCV001389546 ; RCV002341832 ; RCV003469758
• dbSNP Id: rs1275657359
• gnomAD v2: 8-90996785-CA-C
• gnomAD v4: 8-89984557-CA-C
• MyVariant Identifiers: chr8:g.90996786del (hg19) ; chr8:g.89984558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984558del , CM000670.2:g.89984558del	GRCh38
NC_000008.10:g.90996786del , CM000670.1:g.90996786del	GRCh37
NC_000008.9:g.91065962del	NCBI36
NG_008860.1:g.5114del , LRG_158:g.5114del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.108del
ENST00000523444.2:c.-293del	ENSP00000428252.2:n.-293del
ENST00000697292.1:c.4del	ENSP00000513229.1:p.Trp2GlyfsTer18
ENST00000697293.1:c.4del	ENSP00000513230.1:p.Trp2GlyfsTer18
ENST00000697294.1:c.4del	ENSP00000513231.1:p.Trp2GlyfsTer18
ENST00000697295.1:c.4del	ENSP00000513232.1:p.Trp2GlyfsTer17
ENST00000697296.1:c.4del	ENSP00000513233.1:p.Trp2GlyfsTer18
ENST00000697297.1:n.110del
ENST00000697298.1:c.-476del	ENSP00000513234.1:n.-476del
ENST00000697299.1:c.-109del	ENSP00000513235.1:n.-109del
ENST00000697300.1:c.-293del	ENSP00000513236.1:n.-293del
ENST00000697301.1:c.-293del	ENSP00000513237.1:n.-293del
ENST00000697302.1:c.4del	ENSP00000513238.1:p.Trp2GlyfsTer18
ENST00000697303.1:c.4del	ENSP00000513239.1:p.Trp2GlyfsTer18
ENST00000697304.1:c.4del	ENSP00000513240.1:p.Trp2GlyfsTer18
ENST00000697306.1:c.4del	ENSP00000513241.1:p.Trp2GlyfsTer18
ENST00000697307.1:c.4del	ENSP00000513242.1:p.Trp2GlyfsTer18
ENST00000697308.1:c.4del	ENSP00000513243.1:p.Trp2GlyfsTer18
ENST00000697309.1:c.4del	ENSP00000513244.1:p.Trp2GlyfsTer18
ENST00000697310.1:c.4del	ENSP00000513245.1:p.Trp2GlyfsTer18
ENST00000697311.1:c.4del	ENSP00000513246.1:p.Trp2GlyfsTer18
ENST00000697312.1:c.4del	ENSP00000513247.1:p.Trp2GlyfsTer18
ENST00000697313.1:n.116del
ENST00000697314.1:n.116del
ENST00000697315.1:c.4del	ENSP00000513248.1:p.Trp2GlyfsTer18
ENST00000697316.1:n.125del
ENST00000697317.1:n.114del
ENST00000697318.1:n.116del
ENST00000265433.8:c.4del MANE Select	ENSP00000265433.4:p.Trp2GlyfsTer18
ENST00000265433.7:c.4del	ENSP00000265433.3:p.Trp2GlyfsTer18
ENST00000396252.6:c.4del	ENSP00000379551.2:p.Trp2GlyfsTer18
ENST00000494804.1:n.108del
ENST00000519426.5:c.4del	ENSP00000430983.1:p.Trp2GlyfsTer18
ENST00000523444.1:c.4del	ENSP00000428252.1:p.Trp2GlyfsTer18
NM_001024688.2:c.-293del	NP_001019859.1:n.-293del
NM_002485.4:c.4del , LRG_158t1:c.4del	NP_002476.2:p.Trp2GlyfsTer18
XM_011517046.1:c.4del	XP_011515348.1:p.Trp2GlyfsTer18
XR_928335.1:n.141del
XM_017013460.1:c.-1016del	XP_016868949.1:n.-1016del
XM_017013462.2:c.-822del	XP_016868951.1:n.-822del
XM_024447165.1:c.-966del	XP_024302933.1:n.-966del
NM_002485.5:c.4del MANE Select	NP_002476.2:p.Trp2GlyfsTer18
NM_001024688.3:c.-293del	NP_001019859.1:n.-293del