Canonical Allele Identifier: CA16041205

Gene: NBN

Linked Data

• ClinVar Variation Id: 370589
• ClinVar RCV Id: RCV000411194 ; RCV001525393 ; RCV003470328
• dbSNP Id: rs1057516611
• gnomAD v4: 8-89947889-CT-C
• MyVariant Identifiers: chr8:g.90960118del (hg19) ; chr8:g.89947890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947891del , CM000670.2:g.89947891del	GRCh38
NC_000008.10:g.90960119del , CM000670.1:g.90960119del	GRCh37
NC_000008.9:g.91029295del	NCBI36
NG_008860.1:g.41782del , LRG_158:g.41782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3150del
ENST00000517337.2:c.1602del	ENSP00000429971.2:p.Glu535LysfsTer?
ENST00000523444.2:c.1602del	ENSP00000428252.2:p.Glu535LysfsTer?
ENST00000697292.1:c.1848del	ENSP00000513229.1:p.Glu617LysfsTer?
ENST00000697293.1:c.1848del	ENSP00000513230.1:p.Glu617LysfsTer?
ENST00000697294.1:c.*1459del	ENSP00000513231.1:n.*1459del
ENST00000697295.1:c.*1157del	ENSP00000513232.1:n.*1157del
ENST00000697296.1:c.*1516del	ENSP00000513233.1:n.*1516del
ENST00000697297.1:n.3633del
ENST00000697298.1:c.1602del	ENSP00000513234.1:p.Glu535LysfsTer?
ENST00000697299.1:c.1602del	ENSP00000513235.1:p.Glu535LysfsTer?
ENST00000697300.1:c.*1452del	ENSP00000513236.1:n.*1452del
ENST00000697301.1:c.*1369del	ENSP00000513237.1:n.*1369del
ENST00000697302.1:c.*1369del	ENSP00000513238.1:n.*1369del
ENST00000697303.1:c.*1452del	ENSP00000513239.1:n.*1452del
ENST00000697304.1:c.1536del	ENSP00000513240.1:p.Glu513LysfsTer?
ENST00000697306.1:c.*871del	ENSP00000513241.1:n.*871del
ENST00000697307.1:c.1846-4524del	ENSP00000513242.1:n.1846-4524del
ENST00000697308.1:c.1846-1595del	ENSP00000513243.1:n.1846-1595del
ENST00000697309.1:c.1848del	ENSP00000513244.1:p.Glu617LysfsTer?
ENST00000697310.1:c.1848del	ENSP00000513245.1:p.Glu617LysfsTer?
ENST00000697311.1:c.1848del	ENSP00000513246.1:p.Glu617LysfsTer?
ENST00000697312.1:c.*1246del	ENSP00000513247.1:n.*1246del
ENST00000697313.1:n.2688-12278del
ENST00000697314.1:n.3636+5354del
ENST00000697315.1:c.1848del	ENSP00000513248.1:p.Glu617LysfsTer?
ENST00000697316.1:n.1969del
ENST00000697317.1:n.1958del
ENST00000265433.8:c.1848del MANE Select	ENSP00000265433.4:p.Glu617LysfsTer?
ENST00000265433.7:c.1848del	ENSP00000265433.3:p.Glu617LysfsTer?
ENST00000396252.6:c.*1721del	ENSP00000379551.2:n.*1721del
ENST00000409330.5:c.1602del	ENSP00000386924.1:p.Glu535LysfsTer?
ENST00000613033.1:c.114del	ENSP00000484487.1:p.Glu39LysfsTer?
NM_001024688.2:c.1602del	NP_001019859.1:p.Glu535LysfsTer?
NM_002485.4:c.1848del , LRG_158t1:c.1848del	NP_002476.2:p.Glu617LysfsTer?
XM_011517044.1:c.1824del	XP_011515346.1:p.Glu609LysfsTer?
XM_011517045.1:c.1602del	XP_011515347.1:p.Glu535LysfsTer?
XR_928335.1:n.1987del
XM_017013460.1:c.969del	XP_016868949.1:p.Glu324LysfsTer?
XM_017013462.2:c.969del	XP_016868951.1:p.Glu324LysfsTer?
XM_024447163.1:c.1602del	XP_024302931.1:p.Glu535LysfsTer?
XM_024447164.1:c.1602del	XP_024302932.1:p.Glu535LysfsTer?
XM_024447165.1:c.969del	XP_024302933.1:p.Glu324LysfsTer?
NM_002485.5:c.1848del MANE Select	NP_002476.2:p.Glu617LysfsTer?
NM_001024688.3:c.1602del	NP_001019859.1:p.Glu535LysfsTer?