Canonical Allele Identifier: CA658822447

Gene: NBN

Linked Data

• ClinVar Variation Id: 550990
• ClinVar RCV Id: RCV000665934 ; RCV000773336
• dbSNP Id: rs1554554251
• MyVariant Identifiers: chr8:g.89937050_89937052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937054_89937056del , CM000670.2:g.89937054_89937056del	GRCh38
NC_000008.10:g.90949282_90949284del , CM000670.1:g.90949282_90949284del	GRCh37
NC_000008.9:g.91018458_91018460del	NCBI36
NG_008860.1:g.52620_52622del , LRG_158:g.52620_52622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3628_3630del
ENST00000494804.2:n.3510_3512del
ENST00000517337.2:c.1962_1964del	ENSP00000429971.2:p.Glu655del
ENST00000523444.2:c.1962_1964del	ENSP00000428252.2:p.Glu655del
ENST00000697292.1:c.2208_2210del	ENSP00000513229.1:p.Glu737del
ENST00000697293.1:c.2259_2261del	ENSP00000513230.1:p.Glu754del
ENST00000697294.1:c.*1819_*1821del	ENSP00000513231.1:n.*1819_*1821del
ENST00000697295.1:c.*1517_*1519del	ENSP00000513232.1:n.*1517_*1519del
ENST00000697296.1:c.*1876_*1878del	ENSP00000513233.1:n.*1876_*1878del
ENST00000697297.1:n.3993_3995del
ENST00000697298.1:c.1962_1964del	ENSP00000513234.1:p.Glu655del
ENST00000697299.1:c.1962_1964del	ENSP00000513235.1:p.Glu655del
ENST00000697300.1:c.*1812_*1814del	ENSP00000513236.1:n.*1812_*1814del
ENST00000697301.1:c.*1729_*1731del	ENSP00000513237.1:n.*1729_*1731del
ENST00000697302.1:c.*1729_*1731del	ENSP00000513238.1:n.*1729_*1731del
ENST00000697303.1:c.*1812_*1814del	ENSP00000513239.1:n.*1812_*1814del
ENST00000697304.1:c.1896_1898del	ENSP00000513240.1:p.Glu633del
ENST00000697305.1:n.2475_2477del
ENST00000697306.1:c.*2759_*2761del	ENSP00000513241.1:n.*2759_*2761del
ENST00000697307.1:c.1983_1985del	ENSP00000513242.1:p.Glu662del
ENST00000697308.1:c.2139_2141del	ENSP00000513243.1:p.Glu714del
ENST00000697309.1:c.2185-1440_2185-1438del	ENSP00000513244.1:n.2185-1440_2185-1438del
ENST00000697310.1:c.2208_2210del	ENSP00000513245.1:p.Glu737del
ENST00000697311.1:c.*473_*475del	ENSP00000513246.1:n.*473_*475del
ENST00000697312.1:c.*1661_*1663del	ENSP00000513247.1:n.*1661_*1663del
ENST00000697313.1:n.2688-1440_2688-1438del
ENST00000697314.1:n.3637-1440_3637-1438del
ENST00000697315.1:c.*112_*114del	ENSP00000513248.1:n.*112_*114del
ENST00000697316.1:n.2329_2331del
ENST00000265433.8:c.2208_2210del MANE Select	ENSP00000265433.4:p.Glu737del
ENST00000265433.7:c.2208_2210del	ENSP00000265433.3:p.Glu737del
ENST00000396252.6:c.*2081_*2083del	ENSP00000379551.2:n.*2081_*2083del
ENST00000409330.5:c.1962_1964del	ENSP00000386924.1:p.Glu655del
ENST00000474821.1:n.296_298del
ENST00000613033.1:c.318_320del	ENSP00000484487.1:p.Glu107del
NM_001024688.2:c.1962_1964del	NP_001019859.1:p.Glu655del
NM_002485.4:c.2208_2210del , LRG_158t1:c.2208_2210del	NP_002476.2:p.Glu737del
XM_011517044.1:c.2184_2186del	XP_011515346.1:p.Glu729del
XM_011517045.1:c.1962_1964del	XP_011515347.1:p.Glu655del
XM_017013460.1:c.1329_1331del	XP_016868949.1:p.Glu444del
XM_017013462.2:c.1329_1331del	XP_016868951.1:p.Glu444del
XM_024447163.1:c.1962_1964del	XP_024302931.1:p.Glu655del
XM_024447164.1:c.1962_1964del	XP_024302932.1:p.Glu655del
XM_024447165.1:c.1329_1331del	XP_024302933.1:p.Glu444del
NM_002485.5:c.2208_2210del MANE Select	NP_002476.2:p.Glu737del
NM_001024688.3:c.1962_1964del	NP_001019859.1:p.Glu655del