Canonical Allele Identifier: CA462114626

Gene: NBN

Linked Data

• ClinVar Variation Id: 1777265
• ClinVar RCV Id: RCV002403667 ; RCV003465729
• gnomAD v4: 8-89953437-CT-C
• COSMIC: COSM1458549
• MyVariant Identifiers: chr8:g.90965666del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953444del , CM000670.2:g.89953444del	GRCh38
NC_000008.10:g.90965672del , CM000670.1:g.90965672del	GRCh37
NC_000008.9:g.91034848del	NCBI36
NG_008860.1:g.36234del , LRG_158:g.36234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2953del
ENST00000517337.2:c.1405del	ENSP00000429971.2:p.Arg469GlyfsTer8
ENST00000523444.2:c.1405del	ENSP00000428252.2:p.Arg469GlyfsTer8
ENST00000697292.1:c.1651del	ENSP00000513229.1:p.Arg551GlyfsTer8
ENST00000697293.1:c.1651del	ENSP00000513230.1:p.Arg551GlyfsTer8
ENST00000697294.1:c.*1262del	ENSP00000513231.1:n.*1262del
ENST00000697295.1:c.*960del	ENSP00000513232.1:n.*960del
ENST00000697296.1:c.*1319del	ENSP00000513233.1:n.*1319del
ENST00000697297.1:n.3436del
ENST00000697298.1:c.1405del	ENSP00000513234.1:p.Arg469GlyfsTer8
ENST00000697299.1:c.1405del	ENSP00000513235.1:p.Arg469GlyfsTer8
ENST00000697300.1:c.*1255del	ENSP00000513236.1:n.*1255del
ENST00000697301.1:c.*1172del	ENSP00000513237.1:n.*1172del
ENST00000697302.1:c.*1172del	ENSP00000513238.1:n.*1172del
ENST00000697303.1:c.*1255del	ENSP00000513239.1:n.*1255del
ENST00000697304.1:c.1339del	ENSP00000513240.1:p.Arg447GlyfsTer8
ENST00000697306.1:c.*651del	ENSP00000513241.1:n.*651del
ENST00000697307.1:c.1651del	ENSP00000513242.1:p.Arg551GlyfsTer8
ENST00000697308.1:c.1651del	ENSP00000513243.1:p.Arg551GlyfsTer8
ENST00000697309.1:c.1651del	ENSP00000513244.1:p.Arg551GlyfsTer8
ENST00000697310.1:c.1651del	ENSP00000513245.1:p.Arg551GlyfsTer8
ENST00000697311.1:c.1651del	ENSP00000513246.1:p.Arg551GlyfsTer8
ENST00000697312.1:c.*1049del	ENSP00000513247.1:n.*1049del
ENST00000697313.1:n.2687+16926del
ENST00000697314.1:n.3442del
ENST00000697315.1:c.1651del	ENSP00000513248.1:p.Arg551GlyfsTer8
ENST00000697316.1:n.1772del
ENST00000697317.1:n.1761del
ENST00000697318.1:n.1763del
ENST00000265433.8:c.1651del MANE Select	ENSP00000265433.4:p.Arg551GlyfsTer8
ENST00000265433.7:c.1651del	ENSP00000265433.3:p.Arg551GlyfsTer8
ENST00000396252.6:c.*1524del	ENSP00000379551.2:n.*1524del
ENST00000409330.5:c.1405del	ENSP00000386924.1:p.Arg469GlyfsTer8
NM_001024688.2:c.1405del	NP_001019859.1:p.Arg469GlyfsTer8
NM_002485.4:c.1651del , LRG_158t1:c.1651del	NP_002476.2:p.Arg551GlyfsTer8
XM_011517044.1:c.1627del	XP_011515346.1:p.Arg543GlyfsTer8
XM_011517045.1:c.1405del	XP_011515347.1:p.Arg469GlyfsTer8
XR_928335.1:n.1790del
XM_017013460.1:c.772del	XP_016868949.1:p.Arg258GlyfsTer8
XM_017013462.2:c.772del	XP_016868951.1:p.Arg258GlyfsTer8
XM_024447163.1:c.1405del	XP_024302931.1:p.Arg469GlyfsTer8
XM_024447164.1:c.1405del	XP_024302932.1:p.Arg469GlyfsTer8
XM_024447165.1:c.772del	XP_024302933.1:p.Arg258GlyfsTer8
NM_002485.5:c.1651del MANE Select	NP_002476.2:p.Arg551GlyfsTer8
NM_001024688.3:c.1405del	NP_001019859.1:p.Arg469GlyfsTer8