Canonical Allele Identifier: CA2739268856

Gene: NBN

Linked Data

• ClinVar Variation Id: 2820864
• ClinVar RCV Id: RCV003618533

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937044_89937046del , CM000670.2:g.89937044_89937046del	GRCh38
NC_000008.10:g.90949272_90949274del , CM000670.1:g.90949272_90949274del	GRCh37
NC_000008.9:g.91018448_91018450del	NCBI36
NG_008860.1:g.52627_52629del , LRG_158:g.52627_52629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3635_3637del
ENST00000494804.2:n.3517_3519del
ENST00000517337.2:c.1969_1971del	ENSP00000429971.2:p.Leu657del
ENST00000523444.2:c.1969_1971del	ENSP00000428252.2:p.Leu657del
ENST00000697292.1:c.2215_2217del	ENSP00000513229.1:p.Leu739del
ENST00000697293.1:c.2266_2268del	ENSP00000513230.1:p.Leu756del
ENST00000697294.1:c.*1826_*1828del	ENSP00000513231.1:n.*1826_*1828del
ENST00000697295.1:c.*1524_*1526del	ENSP00000513232.1:n.*1524_*1526del
ENST00000697296.1:c.*1883_*1885del	ENSP00000513233.1:n.*1883_*1885del
ENST00000697297.1:n.4000_4002del
ENST00000697298.1:c.1969_1971del	ENSP00000513234.1:p.Leu657del
ENST00000697299.1:c.1969_1971del	ENSP00000513235.1:p.Leu657del
ENST00000697300.1:c.*1819_*1821del	ENSP00000513236.1:n.*1819_*1821del
ENST00000697301.1:c.*1736_*1738del	ENSP00000513237.1:n.*1736_*1738del
ENST00000697302.1:c.*1736_*1738del	ENSP00000513238.1:n.*1736_*1738del
ENST00000697303.1:c.*1819_*1821del	ENSP00000513239.1:n.*1819_*1821del
ENST00000697304.1:c.1903_1905del	ENSP00000513240.1:p.Leu635del
ENST00000697305.1:n.2482_2484del
ENST00000697306.1:c.*2766_*2768del	ENSP00000513241.1:n.*2766_*2768del
ENST00000697307.1:c.1990_1992del	ENSP00000513242.1:p.Leu664del
ENST00000697308.1:c.2146_2148del	ENSP00000513243.1:p.Leu716del
ENST00000697309.1:c.2185-1433_2185-1431del	ENSP00000513244.1:n.2185-1433_2185-1431del
ENST00000697310.1:c.2215_2217del	ENSP00000513245.1:p.Leu739del
ENST00000697311.1:c.*480_*482del	ENSP00000513246.1:n.*480_*482del
ENST00000697312.1:c.*1668_*1670del	ENSP00000513247.1:n.*1668_*1670del
ENST00000697313.1:n.2688-1433_2688-1431del
ENST00000697314.1:n.3637-1433_3637-1431del
ENST00000697315.1:c.*119_*121del	ENSP00000513248.1:n.*119_*121del
ENST00000697316.1:n.2336_2338del
ENST00000265433.8:c.2215_2217del MANE Select	ENSP00000265433.4:p.Leu739del
ENST00000265433.7:c.2215_2217del	ENSP00000265433.3:p.Leu739del
ENST00000396252.6:c.*2088_*2090del	ENSP00000379551.2:n.*2088_*2090del
ENST00000409330.5:c.1969_1971del	ENSP00000386924.1:p.Leu657del
ENST00000474821.1:n.303_305del
ENST00000613033.1:c.325_327del	ENSP00000484487.1:p.Leu109del
NM_001024688.2:c.1969_1971del	NP_001019859.1:p.Leu657del
NM_002485.4:c.2215_2217del , LRG_158t1:c.2215_2217del	NP_002476.2:p.Leu739del
XM_011517044.1:c.2191_2193del	XP_011515346.1:p.Leu731del
XM_011517045.1:c.1969_1971del	XP_011515347.1:p.Leu657del
XM_017013460.1:c.1336_1338del	XP_016868949.1:p.Leu446del
XM_017013462.2:c.1336_1338del	XP_016868951.1:p.Leu446del
XM_024447163.1:c.1969_1971del	XP_024302931.1:p.Leu657del
XM_024447164.1:c.1969_1971del	XP_024302932.1:p.Leu657del
XM_024447165.1:c.1336_1338del	XP_024302933.1:p.Leu446del
NM_002485.5:c.2215_2217del MANE Select	NP_002476.2:p.Leu739del
NM_001024688.3:c.1969_1971del	NP_001019859.1:p.Leu657del