Canonical Allele Identifier: CA1801420298

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947877_89947878delinsCA , CM000670.2:g.89947877_89947878delinsCA	GRCh38
NC_000008.10:g.90960105_90960106delinsCA , CM000670.1:g.90960105_90960106delinsCA	GRCh37
NC_000008.9:g.91029281_91029282delinsCA	NCBI36
NG_008860.1:g.41794_41795delinsTG , LRG_158:g.41794_41795delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3162_3163delinsTG
ENST00000517337.2:c.1614_1615delinsTG	ENSP00000429971.2:p.Ile538=
ENST00000523444.2:c.1614_1615delinsTG	ENSP00000428252.2:p.Ile538=
ENST00000697292.1:c.1860_1861delinsTG	ENSP00000513229.1:p.Ile620=
ENST00000697293.1:c.1860_1861delinsTG	ENSP00000513230.1:p.Ile620=
ENST00000697294.1:c.*1471_*1472delinsTG	ENSP00000513231.1:n.*1471_*1472delinsTG
ENST00000697295.1:c.*1169_*1170delinsTG	ENSP00000513232.1:n.*1169_*1170delinsTG
ENST00000697296.1:c.*1528_*1529delinsTG	ENSP00000513233.1:n.*1528_*1529delinsTG
ENST00000697297.1:n.3645_3646delinsTG
ENST00000697298.1:c.1614_1615delinsTG	ENSP00000513234.1:p.Ile538=
ENST00000697299.1:c.1614_1615delinsTG	ENSP00000513235.1:p.Ile538=
ENST00000697300.1:c.*1464_*1465delinsTG	ENSP00000513236.1:n.*1464_*1465delinsTG
ENST00000697301.1:c.*1381_*1382delinsTG	ENSP00000513237.1:n.*1381_*1382delinsTG
ENST00000697302.1:c.*1381_*1382delinsTG	ENSP00000513238.1:n.*1381_*1382delinsTG
ENST00000697303.1:c.*1464_*1465delinsTG	ENSP00000513239.1:n.*1464_*1465delinsTG
ENST00000697304.1:c.1548_1549delinsTG	ENSP00000513240.1:p.Ile516=
ENST00000697306.1:c.*883_*884delinsTG	ENSP00000513241.1:n.*883_*884delinsTG
ENST00000697307.1:c.1846-4512_1846-4511delinsTG	ENSP00000513242.1:n.1846-4512_1846-4511delinsTG
ENST00000697308.1:c.1846-1583_1846-1582delinsTG	ENSP00000513243.1:n.1846-1583_1846-1582delinsTG
ENST00000697309.1:c.1860_1861delinsTG	ENSP00000513244.1:p.Ile620=
ENST00000697310.1:c.1860_1861delinsTG	ENSP00000513245.1:p.Ile620=
ENST00000697311.1:c.1860_1861delinsTG	ENSP00000513246.1:p.Ile620=
ENST00000697312.1:c.*1258_*1259delinsTG	ENSP00000513247.1:n.*1258_*1259delinsTG
ENST00000697313.1:n.2688-12266_2688-12265delinsTG
ENST00000697314.1:n.3636+5366_3636+5367delinsTG
ENST00000697315.1:c.1860_1861delinsTG	ENSP00000513248.1:p.Ile620=
ENST00000697316.1:n.1981_1982delinsTG
ENST00000697317.1:n.1970_1971delinsTG
ENST00000265433.8:c.1860_1861delinsTG MANE Select	ENSP00000265433.4:p.Ile620=
ENST00000265433.7:c.1860_1861delinsTG	ENSP00000265433.3:p.Ile620=
ENST00000396252.6:c.*1733_*1734delinsTG	ENSP00000379551.2:n.*1733_*1734delinsTG
ENST00000409330.5:c.1614_1615delinsTG	ENSP00000386924.1:p.Ile538=
ENST00000613033.1:c.126_127delinsTG	ENSP00000484487.1:p.Ile42=
NM_001024688.2:c.1614_1615delinsTG	NP_001019859.1:p.Ile538=
NM_002485.4:c.1860_1861delinsTG , LRG_158t1:c.1860_1861delinsTG	NP_002476.2:p.Ile620=
XM_011517044.1:c.1836_1837delinsTG	XP_011515346.1:p.Ile612=
XM_011517045.1:c.1614_1615delinsTG	XP_011515347.1:p.Ile538=
XR_928335.1:n.1999_2000delinsTG
XM_017013460.1:c.981_982delinsTG	XP_016868949.1:p.Ile327=
XM_017013462.2:c.981_982delinsTG	XP_016868951.1:p.Ile327=
XM_024447163.1:c.1614_1615delinsTG	XP_024302931.1:p.Ile538=
XM_024447164.1:c.1614_1615delinsTG	XP_024302932.1:p.Ile538=
XM_024447165.1:c.981_982delinsTG	XP_024302933.1:p.Ile327=
NM_002485.5:c.1860_1861delinsTG MANE Select	NP_002476.2:p.Ile620=
NM_001024688.3:c.1614_1615delinsTG	NP_001019859.1:p.Ile538=