Canonical Allele Identifier: CA2967657796

Gene: NBN OSGIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89935610_89935611insTTATTA , CM000670.2:g.89935610_89935611insTTATTA	GRCh38
NC_000008.10:g.90947838_90947839insTTATTA , CM000670.1:g.90947838_90947839insTTATTA	GRCh37
NC_000008.9:g.91017014_91017015insTTATTA	NCBI36
NG_008860.1:g.54061_54062insTAATAA , LRG_158:g.54061_54062insTAATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3656_3657insTAATAA (NBN)
ENST00000494804.2:n.3538_3539insTAATAA (NBN)
ENST00000517337.2:c.1990_1991insTAATAA (NBN)	ENSP00000429971.2:p.Tyr664delinsLeuIleAsn
ENST00000523444.2:c.1990_1991insTAATAA (NBN)	ENSP00000428252.2:p.Tyr664delinsLeuIleAsn
ENST00000697292.1:c.2236_2237insTAATAA (NBN)	ENSP00000513229.1:p.Tyr746delinsLeuIleAsn
ENST00000697293.1:c.2287_2288insTAATAA (NBN)	ENSP00000513230.1:p.Tyr763delinsLeuIleAsn
ENST00000697294.1:c.*1847_*1848insTAATAA (NBN)	ENSP00000513231.1:n.*1847_*1848insTAATAA
ENST00000697295.1:c.*1545_*1546insTAATAA (NBN)	ENSP00000513232.1:n.*1545_*1546insTAATAA
ENST00000697296.1:c.*1904_*1905insTAATAA (NBN)	ENSP00000513233.1:n.*1904_*1905insTAATAA
ENST00000697297.1:n.4021_4022insTAATAA (NBN)
ENST00000697298.1:c.1990_1991insTAATAA (NBN)	ENSP00000513234.1:p.Tyr664delinsLeuIleAsn
ENST00000697299.1:c.1990_1991insTAATAA (NBN)	ENSP00000513235.1:p.Tyr664delinsLeuIleAsn
ENST00000697300.1:c.*1840_*1841insTAATAA (NBN)	ENSP00000513236.1:n.*1840_*1841insTAATAA
ENST00000697301.1:c.*1757_*1758insTAATAA (NBN)	ENSP00000513237.1:n.*1757_*1758insTAATAA
ENST00000697302.1:c.*1757_*1758insTAATAA (NBN)	ENSP00000513238.1:n.*1757_*1758insTAATAA
ENST00000697303.1:c.*1840_*1841insTAATAA (NBN)	ENSP00000513239.1:n.*1840_*1841insTAATAA
ENST00000697304.1:c.1924_1925insTAATAA (NBN)	ENSP00000513240.1:p.Tyr642delinsLeuIleAsn
ENST00000697305.1:n.2503_2504insTAATAA (NBN)
ENST00000697306.1:c.*2787_*2788insTAATAA (NBN)	ENSP00000513241.1:n.*2787_*2788insTAATAA
ENST00000697307.1:c.2011_2012insTAATAA (NBN)	ENSP00000513242.1:p.Tyr671delinsLeuIleAsn
ENST00000697308.1:c.2167_2168insTAATAA (NBN)	ENSP00000513243.1:p.Tyr723delinsLeuIleAsn
ENST00000697309.1:c.2186_2187insTAATAA (NBN)	ENSP00000513244.1:p.Ile729_Gln730insAsnLys
ENST00000697310.1:c.2236_2237insTAATAA (NBN)	ENSP00000513245.1:p.Tyr746delinsLeuIleAsn
ENST00000697311.1:c.*501_*502insTAATAA (NBN)	ENSP00000513246.1:n.*501_*502insTAATAA
ENST00000697312.1:c.*1689_*1690insTAATAA (NBN)	ENSP00000513247.1:n.*1689_*1690insTAATAA
ENST00000697313.1:n.2689_2690insTAATAA (NBN)
ENST00000697314.1:n.3638_3639insTAATAA (NBN)
ENST00000697315.1:c.*140_*141insTAATAA (NBN)	ENSP00000513248.1:n.*140_*141insTAATAA
ENST00000265433.8:c.2236_2237insTAATAA (NBN) MANE Select	ENSP00000265433.4:p.Tyr746delinsLeuIleAsn
ENST00000265433.7:c.2236_2237insTAATAA (NBN)	ENSP00000265433.3:p.Tyr746delinsLeuIleAsn
ENST00000396252.6:c.*2109_*2110insTAATAA (NBN)	ENSP00000379551.2:n.*2109_*2110insTAATAA
ENST00000409330.5:c.1990_1991insTAATAA (NBN)	ENSP00000386924.1:p.Tyr664delinsLeuIleAsn
ENST00000474821.1:n.324_325insTAATAA (NBN)
ENST00000613033.1:c.346_347insTAATAA (NBN)	ENSP00000484487.1:p.Tyr116delinsLeuIleAsn
NM_001024688.2:c.1990_1991insTAATAA (NBN)	NP_001019859.1:p.Tyr664delinsLeuIleAsn
NM_002485.4:c.2236_2237insTAATAA , LRG_158t1:c.2236_2237insTAATAA (NBN)	NP_002476.2:p.Tyr746delinsLeuIleAsn
XM_011517044.1:c.2212_2213insTAATAA (NBN)	XP_011515346.1:p.Tyr738delinsLeuIleAsn
XM_011517045.1:c.1990_1991insTAATAA (NBN)	XP_011515347.1:p.Tyr664delinsLeuIleAsn
XM_011517287.3:c.*10078_*10079insTTATTA (OSGIN2)	XP_011515589.1:n.*10078_*10079insTTATTA
XM_011517288.3:c.*10078_*10079insTTATTA (OSGIN2)	XP_011515590.1:n.*10078_*10079insTTATTA
XM_017013460.1:c.1357_1358insTAATAA (NBN)	XP_016868949.1:p.Tyr453delinsLeuIleAsn
XM_017013462.2:c.1357_1358insTAATAA (NBN)	XP_016868951.1:p.Tyr453delinsLeuIleAsn
XM_024447163.1:c.1990_1991insTAATAA (NBN)	XP_024302931.1:p.Tyr664delinsLeuIleAsn
XM_024447164.1:c.1990_1991insTAATAA (NBN)	XP_024302932.1:p.Tyr664delinsLeuIleAsn
XM_024447165.1:c.1357_1358insTAATAA (NBN)	XP_024302933.1:p.Tyr453delinsLeuIleAsn
NM_002485.5:c.2236_2237insTAATAA (NBN) MANE Select	NP_002476.2:p.Tyr746delinsLeuIleAsn
NM_001024688.3:c.1990_1991insTAATAA (NBN)	NP_001019859.1:p.Tyr664delinsLeuIleAsn