Canonical Allele Identifier: CA1801415405

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937041_89937044delinsGCAA , CM000670.2:g.89937041_89937044delinsGCAA	GRCh38
NC_000008.10:g.90949269_90949272delinsGCAA , CM000670.1:g.90949269_90949272delinsGCAA	GRCh37
NC_000008.9:g.91018445_91018448delinsGCAA	NCBI36
NG_008860.1:g.52628_52631delinsTTGC , LRG_158:g.52628_52631delinsTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3636_3639delinsTTGC
ENST00000494804.2:n.3518_3521delinsTTGC
ENST00000517337.2:c.1970_1973delinsTTGC	ENSP00000429971.2:p.Leu657=
ENST00000523444.2:c.1970_1973delinsTTGC	ENSP00000428252.2:p.Leu657=
ENST00000697292.1:c.2216_2219delinsTTGC	ENSP00000513229.1:p.Leu739=
ENST00000697293.1:c.2267_2270delinsTTGC	ENSP00000513230.1:p.Leu756=
ENST00000697294.1:c.*1827_*1830delinsTTGC	ENSP00000513231.1:n.*1827_*1830delinsTTGC
ENST00000697295.1:c.*1525_*1528delinsTTGC	ENSP00000513232.1:n.*1525_*1528delinsTTGC
ENST00000697296.1:c.*1884_*1887delinsTTGC	ENSP00000513233.1:n.*1884_*1887delinsTTGC
ENST00000697297.1:n.4001_4004delinsTTGC
ENST00000697298.1:c.1970_1973delinsTTGC	ENSP00000513234.1:p.Leu657=
ENST00000697299.1:c.1970_1973delinsTTGC	ENSP00000513235.1:p.Leu657=
ENST00000697300.1:c.*1820_*1823delinsTTGC	ENSP00000513236.1:n.*1820_*1823delinsTTGC
ENST00000697301.1:c.*1737_*1740delinsTTGC	ENSP00000513237.1:n.*1737_*1740delinsTTGC
ENST00000697302.1:c.*1737_*1740delinsTTGC	ENSP00000513238.1:n.*1737_*1740delinsTTGC
ENST00000697303.1:c.*1820_*1823delinsTTGC	ENSP00000513239.1:n.*1820_*1823delinsTTGC
ENST00000697304.1:c.1904_1907delinsTTGC	ENSP00000513240.1:p.Leu635=
ENST00000697305.1:n.2483_2486delinsTTGC
ENST00000697306.1:c.*2767_*2770delinsTTGC	ENSP00000513241.1:n.*2767_*2770delinsTTGC
ENST00000697307.1:c.1991_1994delinsTTGC	ENSP00000513242.1:p.Leu664=
ENST00000697308.1:c.2147_2150delinsTTGC	ENSP00000513243.1:p.Leu716=
ENST00000697309.1:c.2185-1432_2185-1429delinsTTGC	ENSP00000513244.1:n.2185-1432_2185-1429delinsTTGC
ENST00000697310.1:c.2216_2219delinsTTGC	ENSP00000513245.1:p.Leu739=
ENST00000697311.1:c.*481_*484delinsTTGC	ENSP00000513246.1:n.*481_*484delinsTTGC
ENST00000697312.1:c.*1669_*1672delinsTTGC	ENSP00000513247.1:n.*1669_*1672delinsTTGC
ENST00000697313.1:n.2688-1432_2688-1429delinsTTGC
ENST00000697314.1:n.3637-1432_3637-1429delinsTTGC
ENST00000697315.1:c.*120_*123delinsTTGC	ENSP00000513248.1:n.*120_*123delinsTTGC
ENST00000697316.1:n.2337_2340delinsTTGC
ENST00000265433.8:c.2216_2219delinsTTGC MANE Select	ENSP00000265433.4:p.Leu739=
ENST00000265433.7:c.2216_2219delinsTTGC	ENSP00000265433.3:p.Leu739=
ENST00000396252.6:c.*2089_*2092delinsTTGC	ENSP00000379551.2:n.*2089_*2092delinsTTGC
ENST00000409330.5:c.1970_1973delinsTTGC	ENSP00000386924.1:p.Leu657=
ENST00000474821.1:n.304_307delinsTTGC
ENST00000613033.1:c.326_329delinsTTGC	ENSP00000484487.1:p.Leu109=
NM_001024688.2:c.1970_1973delinsTTGC	NP_001019859.1:p.Leu657=
NM_002485.4:c.2216_2219delinsTTGC , LRG_158t1:c.2216_2219delinsTTGC	NP_002476.2:p.Leu739=
XM_011517044.1:c.2192_2195delinsTTGC	XP_011515346.1:p.Leu731=
XM_011517045.1:c.1970_1973delinsTTGC	XP_011515347.1:p.Leu657=
XM_017013460.1:c.1337_1340delinsTTGC	XP_016868949.1:p.Leu446=
XM_017013462.2:c.1337_1340delinsTTGC	XP_016868951.1:p.Leu446=
XM_024447163.1:c.1970_1973delinsTTGC	XP_024302931.1:p.Leu657=
XM_024447164.1:c.1970_1973delinsTTGC	XP_024302932.1:p.Leu657=
XM_024447165.1:c.1337_1340delinsTTGC	XP_024302933.1:p.Leu446=
NM_002485.5:c.2216_2219delinsTTGC MANE Select	NP_002476.2:p.Leu739=
NM_001024688.3:c.1970_1973delinsTTGC	NP_001019859.1:p.Leu657=