Canonical Allele Identifier: CA334142

Gene: NBN

Linked Data

• ClinVar Variation Id: 188137
• ClinVar RCV Id: RCV000168012 ; RCV000575158
• dbSNP Id: rs786204096
• MyVariant Identifiers: chr8:g.90955529_90955531del (hg19) ; chr8:g.89943301_89943303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89943305_89943307del , CM000670.2:g.89943305_89943307del	GRCh38
NC_000008.10:g.90955533_90955535del , CM000670.1:g.90955533_90955535del	GRCh37
NC_000008.9:g.91024709_91024711del	NCBI36
NG_008860.1:g.46369_46371del , LRG_158:g.46369_46371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3436_3438del
ENST00000517337.2:c.1888_1890del	ENSP00000429971.2:p.His630del
ENST00000523444.2:c.1888_1890del	ENSP00000428252.2:p.His630del
ENST00000697292.1:c.2134_2136del	ENSP00000513229.1:p.His712del
ENST00000697293.1:c.2134_2136del	ENSP00000513230.1:p.His712del
ENST00000697294.1:c.*1745_*1747del	ENSP00000513231.1:n.*1745_*1747del
ENST00000697295.1:c.*1443_*1445del	ENSP00000513232.1:n.*1443_*1445del
ENST00000697296.1:c.*1802_*1804del	ENSP00000513233.1:n.*1802_*1804del
ENST00000697297.1:n.3919_3921del
ENST00000697298.1:c.1888_1890del	ENSP00000513234.1:p.His630del
ENST00000697299.1:c.1888_1890del	ENSP00000513235.1:p.His630del
ENST00000697300.1:c.*1738_*1740del	ENSP00000513236.1:n.*1738_*1740del
ENST00000697301.1:c.*1655_*1657del	ENSP00000513237.1:n.*1655_*1657del
ENST00000697302.1:c.*1655_*1657del	ENSP00000513238.1:n.*1655_*1657del
ENST00000697303.1:c.*1738_*1740del	ENSP00000513239.1:n.*1738_*1740del
ENST00000697304.1:c.1822_1824del	ENSP00000513240.1:p.His608del
ENST00000697305.1:n.2401_2403del
ENST00000697306.1:c.*2685_*2687del	ENSP00000513241.1:n.*2685_*2687del
ENST00000697307.1:c.1909_1911del	ENSP00000513242.1:p.His637del
ENST00000697308.1:c.2065_2067del	ENSP00000513243.1:p.His689del
ENST00000697309.1:c.2134_2136del	ENSP00000513244.1:p.His712del
ENST00000697310.1:c.2134_2136del	ENSP00000513245.1:p.His712del
ENST00000697311.1:c.2134_2136del	ENSP00000513246.1:p.His712del
ENST00000697312.1:c.*1532_*1534del	ENSP00000513247.1:n.*1532_*1534del
ENST00000697313.1:n.2688-7691_2688-7689del
ENST00000697314.1:n.3637-7691_3637-7689del
ENST00000697315.1:c.2134_2136del	ENSP00000513248.1:p.His712del
ENST00000697316.1:n.2255_2257del
ENST00000265433.8:c.2134_2136del MANE Select	ENSP00000265433.4:p.His712del
ENST00000265433.7:c.2134_2136del	ENSP00000265433.3:p.His712del
ENST00000396252.6:c.*2007_*2009del	ENSP00000379551.2:n.*2007_*2009del
ENST00000409330.5:c.1888_1890del	ENSP00000386924.1:p.His630del
ENST00000613033.1:c.244_246del	ENSP00000484487.1:p.His82del
NM_001024688.2:c.1888_1890del	NP_001019859.1:p.His630del
NM_002485.4:c.2134_2136del , LRG_158t1:c.2134_2136del	NP_002476.2:p.His712del
XM_011517044.1:c.2110_2112del	XP_011515346.1:p.His704del
XM_011517045.1:c.1888_1890del	XP_011515347.1:p.His630del
XM_017013460.1:c.1255_1257del	XP_016868949.1:p.His419del
XM_017013462.2:c.1255_1257del	XP_016868951.1:p.His419del
XM_024447163.1:c.1888_1890del	XP_024302931.1:p.His630del
XM_024447164.1:c.1888_1890del	XP_024302932.1:p.His630del
XM_024447165.1:c.1255_1257del	XP_024302933.1:p.His419del
NM_002485.5:c.2134_2136del MANE Select	NP_002476.2:p.His712del
NM_001024688.3:c.1888_1890del	NP_001019859.1:p.His630del