Canonical Allele Identifier: CA2967657919
Community Standard Title: NM_002485.5(NBN):c.1351_1353del (p.Gln451del)
Gene: NBN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89955336_89955338del , CM000670.2:g.89955336_89955338del GRCh38
NC_000008.10:g.90967564_90967566del , CM000670.1:g.90967564_90967566del GRCh37
NC_000008.9:g.91036740_91036742del NCBI36
NG_008860.1:g.34343_34345del , LRG_158:g.34343_34345del

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.1351_1353del MANE Select NP_002476.2:p.Gln451del
ENST00000265433.8:c.1351_1353del MANE Select ENSP00000265433.4:p.Gln451del
NM_001024688.2:c.1105_1107del NP_001019859.1:p.Gln369del
NM_001024688.3:c.1105_1107del NP_001019859.1:p.Gln369del
NM_002485.4:c.1351_1353del , LRG_158t1:c.1351_1353del NP_002476.2:p.Gln451del
ENST00000265433.7:c.1351_1353del ENSP00000265433.3:p.Gln451del
ENST00000396252.6:c.*1224_*1226del ENSP00000379551.2:n.*1224_*1226del
ENST00000409330.5:c.1105_1107del ENSP00000386924.1:p.Gln369del
ENST00000494804.2:n.2653_2655del
ENST00000517337.2:c.1105_1107del ENSP00000429971.2:p.Gln369del
ENST00000523444.2:c.1105_1107del ENSP00000428252.2:p.Gln369del
ENST00000697292.1:c.1351_1353del ENSP00000513229.1:p.Gln451del
ENST00000697293.1:c.1351_1353del ENSP00000513230.1:p.Gln451del
ENST00000697294.1:c.*962_*964del ENSP00000513231.1:n.*962_*964del
ENST00000697295.1:c.*660_*662del ENSP00000513232.1:n.*660_*662del
ENST00000697296.1:c.*1019_*1021del ENSP00000513233.1:n.*1019_*1021del
ENST00000697297.1:n.3136_3138del
ENST00000697298.1:c.1105_1107del ENSP00000513234.1:p.Gln369del
ENST00000697299.1:c.1105_1107del ENSP00000513235.1:p.Gln369del
ENST00000697300.1:c.*955_*957del ENSP00000513236.1:n.*955_*957del
ENST00000697301.1:c.*872_*874del ENSP00000513237.1:n.*872_*874del
ENST00000697302.1:c.*872_*874del ENSP00000513238.1:n.*872_*874del
ENST00000697303.1:c.*955_*957del ENSP00000513239.1:n.*955_*957del
ENST00000697304.1:c.1039_1041del ENSP00000513240.1:p.Gln347del
ENST00000697306.1:c.*351_*353del ENSP00000513241.1:n.*351_*353del
ENST00000697307.1:c.1351_1353del ENSP00000513242.1:p.Gln451del
ENST00000697308.1:c.1351_1353del ENSP00000513243.1:p.Gln451del
ENST00000697309.1:c.1351_1353del ENSP00000513244.1:p.Gln451del
ENST00000697310.1:c.1351_1353del ENSP00000513245.1:p.Gln451del
ENST00000697311.1:c.1351_1353del ENSP00000513246.1:p.Gln451del
ENST00000697312.1:c.*749_*751del ENSP00000513247.1:n.*749_*751del
ENST00000697313.1:n.2687+15035_2687+15037del
ENST00000697314.1:n.3142_3144del
ENST00000697315.1:c.1351_1353del ENSP00000513248.1:p.Gln451del
ENST00000697316.1:n.1472_1474del
ENST00000697317.1:n.1461_1463del
ENST00000697318.1:n.1463_1465del
XM_011517044.1:c.1327_1329del XP_011515346.1:p.Gln443del
XM_011517045.1:c.1105_1107del XP_011515347.1:p.Gln369del
XM_011517046.1:c.1351_1353del XP_011515348.1:p.Gln451del
XM_017013460.1:c.472_474del XP_016868949.1:p.Gln158del
XM_017013462.2:c.472_474del XP_016868951.1:p.Gln158del
XM_024447163.1:c.1105_1107del XP_024302931.1:p.Gln369del
XM_024447164.1:c.1105_1107del XP_024302932.1:p.Gln369del
XM_024447165.1:c.472_474del XP_024302933.1:p.Gln158del
XR_928335.1:n.1488_1490del