Canonical Allele Identifier: CA10578740

Gene: NBN

Linked Data

• ClinVar Variation Id: 232093
• ClinVar RCV Id: RCV000215231 ; RCV000666188
• dbSNP Id: rs876659551
• gnomAD v2: 8-90949259-AAG-A
• gnomAD v3: 8-89937031-AAG-A
• gnomAD v4: 8-89937031-AAG-A
• MyVariant Identifiers: chr8:g.90949260_90949261del (hg19) ; chr8:g.89937032_89937033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937033_89937034del , CM000670.2:g.89937033_89937034del	GRCh38
NC_000008.10:g.90949261_90949262del , CM000670.1:g.90949261_90949262del	GRCh37
NC_000008.9:g.91018437_91018438del	NCBI36
NG_008860.1:g.52639_52640del , LRG_158:g.52639_52640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3647_3648del
ENST00000494804.2:n.3529_3530del
ENST00000517337.2:c.1981_1982del	ENSP00000429971.2:p.Leu661PhefsTer2
ENST00000523444.2:c.1981_1982del	ENSP00000428252.2:p.Leu661PhefsTer2
ENST00000697292.1:c.2227_2228del	ENSP00000513229.1:p.Leu743PhefsTer2
ENST00000697293.1:c.2278_2279del	ENSP00000513230.1:p.Leu760PhefsTer2
ENST00000697294.1:c.*1838_*1839del	ENSP00000513231.1:n.*1838_*1839del
ENST00000697295.1:c.*1536_*1537del	ENSP00000513232.1:n.*1536_*1537del
ENST00000697296.1:c.*1895_*1896del	ENSP00000513233.1:n.*1895_*1896del
ENST00000697297.1:n.4012_4013del
ENST00000697298.1:c.1981_1982del	ENSP00000513234.1:p.Leu661PhefsTer2
ENST00000697299.1:c.1981_1982del	ENSP00000513235.1:p.Leu661PhefsTer2
ENST00000697300.1:c.*1831_*1832del	ENSP00000513236.1:n.*1831_*1832del
ENST00000697301.1:c.*1748_*1749del	ENSP00000513237.1:n.*1748_*1749del
ENST00000697302.1:c.*1748_*1749del	ENSP00000513238.1:n.*1748_*1749del
ENST00000697303.1:c.*1831_*1832del	ENSP00000513239.1:n.*1831_*1832del
ENST00000697304.1:c.1915_1916del	ENSP00000513240.1:p.Leu639PhefsTer2
ENST00000697305.1:n.2494_2495del
ENST00000697306.1:c.*2778_*2779del	ENSP00000513241.1:n.*2778_*2779del
ENST00000697307.1:c.2002_2003del	ENSP00000513242.1:p.Leu668PhefsTer2
ENST00000697308.1:c.2158_2159del	ENSP00000513243.1:p.Leu720PhefsTer2
ENST00000697309.1:c.2185-1421_2185-1420del	ENSP00000513244.1:n.2185-1421_2185-1420del
ENST00000697310.1:c.2227_2228del	ENSP00000513245.1:p.Leu743PhefsTer2
ENST00000697311.1:c.*492_*493del	ENSP00000513246.1:n.*492_*493del
ENST00000697312.1:c.*1680_*1681del	ENSP00000513247.1:n.*1680_*1681del
ENST00000697313.1:n.2688-1421_2688-1420del
ENST00000697314.1:n.3637-1421_3637-1420del
ENST00000697315.1:c.*131_*132del	ENSP00000513248.1:n.*131_*132del
ENST00000697316.1:n.2348_2349del
ENST00000265433.8:c.2227_2228del MANE Select	ENSP00000265433.4:p.Leu743PhefsTer2
ENST00000265433.7:c.2227_2228del	ENSP00000265433.3:p.Leu743PhefsTer2
ENST00000396252.6:c.*2100_*2101del	ENSP00000379551.2:n.*2100_*2101del
ENST00000409330.5:c.1981_1982del	ENSP00000386924.1:p.Leu661PhefsTer2
ENST00000474821.1:n.315_316del
ENST00000613033.1:c.337_338del	ENSP00000484487.1:p.Leu113PhefsTer2
NM_001024688.2:c.1981_1982del	NP_001019859.1:p.Leu661PhefsTer2
NM_002485.4:c.2227_2228del , LRG_158t1:c.2227_2228del	NP_002476.2:p.Leu743PhefsTer2
XM_011517044.1:c.2203_2204del	XP_011515346.1:p.Leu735PhefsTer2
XM_011517045.1:c.1981_1982del	XP_011515347.1:p.Leu661PhefsTer2
XM_017013460.1:c.1348_1349del	XP_016868949.1:p.Leu450PhefsTer2
XM_017013462.2:c.1348_1349del	XP_016868951.1:p.Leu450PhefsTer2
XM_024447163.1:c.1981_1982del	XP_024302931.1:p.Leu661PhefsTer2
XM_024447164.1:c.1981_1982del	XP_024302932.1:p.Leu661PhefsTer2
XM_024447165.1:c.1348_1349del	XP_024302933.1:p.Leu450PhefsTer2
NM_002485.5:c.2227_2228del MANE Select	NP_002476.2:p.Leu743PhefsTer2
NM_001024688.3:c.1981_1982del	NP_001019859.1:p.Leu661PhefsTer2