Canonical Allele Identifier: CA2536818412

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953348_89953350del , CM000670.2:g.89953348_89953350del	GRCh38
NC_000008.10:g.90965576_90965578del , CM000670.1:g.90965576_90965578del	GRCh37
NC_000008.9:g.91034752_91034754del	NCBI36
NG_008860.1:g.36322_36324del , LRG_158:g.36322_36324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3041_3043del
ENST00000517337.2:c.1493_1495del	ENSP00000429971.2:p.Val498_Gln499delinsGlu
ENST00000523444.2:c.1493_1495del	ENSP00000428252.2:p.Val498_Gln499delinsGlu
ENST00000697292.1:c.1739_1741del	ENSP00000513229.1:p.Val580_Gln581delinsGlu
ENST00000697293.1:c.1739_1741del	ENSP00000513230.1:p.Val580_Gln581delinsGlu
ENST00000697294.1:c.*1350_*1352del	ENSP00000513231.1:n.*1350_*1352del
ENST00000697295.1:c.*1048_*1050del	ENSP00000513232.1:n.*1048_*1050del
ENST00000697296.1:c.*1407_*1409del	ENSP00000513233.1:n.*1407_*1409del
ENST00000697297.1:n.3524_3526del
ENST00000697298.1:c.1493_1495del	ENSP00000513234.1:p.Val498_Gln499delinsGlu
ENST00000697299.1:c.1493_1495del	ENSP00000513235.1:p.Val498_Gln499delinsGlu
ENST00000697300.1:c.*1343_*1345del	ENSP00000513236.1:n.*1343_*1345del
ENST00000697301.1:c.*1260_*1262del	ENSP00000513237.1:n.*1260_*1262del
ENST00000697302.1:c.*1260_*1262del	ENSP00000513238.1:n.*1260_*1262del
ENST00000697303.1:c.*1343_*1345del	ENSP00000513239.1:n.*1343_*1345del
ENST00000697304.1:c.1427_1429del	ENSP00000513240.1:p.Val476_Gln477delinsGlu
ENST00000697306.1:c.*739_*741del	ENSP00000513241.1:n.*739_*741del
ENST00000697307.1:c.1739_1741del	ENSP00000513242.1:p.Val580_Gln581delinsGlu
ENST00000697308.1:c.1739_1741del	ENSP00000513243.1:p.Val580_Gln581delinsGlu
ENST00000697309.1:c.1739_1741del	ENSP00000513244.1:p.Val580_Gln581delinsGlu
ENST00000697310.1:c.1739_1741del	ENSP00000513245.1:p.Val580_Gln581delinsGlu
ENST00000697311.1:c.1739_1741del	ENSP00000513246.1:p.Val580_Gln581delinsGlu
ENST00000697312.1:c.*1137_*1139del	ENSP00000513247.1:n.*1137_*1139del
ENST00000697313.1:n.2687+17014_2687+17016del
ENST00000697314.1:n.3530_3532del
ENST00000697315.1:c.1739_1741del	ENSP00000513248.1:p.Val580_Gln581delinsGlu
ENST00000697316.1:n.1860_1862del
ENST00000697317.1:n.1849_1851del
ENST00000697318.1:n.1851_1853del
ENST00000265433.8:c.1739_1741del MANE Select	ENSP00000265433.4:p.Val580_Gln581delinsGlu
ENST00000265433.7:c.1739_1741del	ENSP00000265433.3:p.Val580_Gln581delinsGlu
ENST00000396252.6:c.*1612_*1614del	ENSP00000379551.2:n.*1612_*1614del
ENST00000409330.5:c.1493_1495del	ENSP00000386924.1:p.Val498_Gln499delinsGlu
ENST00000613033.1:c.5_7del	ENSP00000484487.1:p.Val2_Gln3delinsGlu
NM_001024688.2:c.1493_1495del	NP_001019859.1:p.Val498_Gln499delinsGlu
NM_002485.4:c.1739_1741del , LRG_158t1:c.1739_1741del	NP_002476.2:p.Val580_Gln581delinsGlu
XM_011517044.1:c.1715_1717del	XP_011515346.1:p.Val572_Gln573delinsGlu
XM_011517045.1:c.1493_1495del	XP_011515347.1:p.Val498_Gln499delinsGlu
XR_928335.1:n.1878_1880del
XM_017013460.1:c.860_862del	XP_016868949.1:p.Val287_Gln288delinsGlu
XM_017013462.2:c.860_862del	XP_016868951.1:p.Val287_Gln288delinsGlu
XM_024447163.1:c.1493_1495del	XP_024302931.1:p.Val498_Gln499delinsGlu
XM_024447164.1:c.1493_1495del	XP_024302932.1:p.Val498_Gln499delinsGlu
XM_024447165.1:c.860_862del	XP_024302933.1:p.Val287_Gln288delinsGlu
NM_002485.5:c.1739_1741del MANE Select	NP_002476.2:p.Val580_Gln581delinsGlu
NM_001024688.3:c.1493_1495del	NP_001019859.1:p.Val498_Gln499delinsGlu