Canonical Allele Identifier: CA1801422811

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953341T= , CM000670.2:g.89953341T=	GRCh38
NC_000008.10:g.90965569T= , CM000670.1:g.90965569T=	GRCh37
NC_000008.9:g.91034745T=	NCBI36
NG_008860.1:g.36331A= , LRG_158:g.36331A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3050A=
ENST00000517337.2:c.1502A=	ENSP00000429971.2:p.Gln501=
ENST00000523444.2:c.1502A=	ENSP00000428252.2:p.Gln501=
ENST00000697292.1:c.1748A=	ENSP00000513229.1:p.Gln583=
ENST00000697293.1:c.1748A=	ENSP00000513230.1:p.Gln583=
ENST00000697294.1:c.*1359A=	ENSP00000513231.1:n.*1359A=
ENST00000697295.1:c.*1057A=	ENSP00000513232.1:n.*1057A=
ENST00000697296.1:c.*1416A=	ENSP00000513233.1:n.*1416A=
ENST00000697297.1:n.3533A=
ENST00000697298.1:c.1502A=	ENSP00000513234.1:p.Gln501=
ENST00000697299.1:c.1502A=	ENSP00000513235.1:p.Gln501=
ENST00000697300.1:c.*1352A=	ENSP00000513236.1:n.*1352A=
ENST00000697301.1:c.*1269A=	ENSP00000513237.1:n.*1269A=
ENST00000697302.1:c.*1269A=	ENSP00000513238.1:n.*1269A=
ENST00000697303.1:c.*1352A=	ENSP00000513239.1:n.*1352A=
ENST00000697304.1:c.1436A=	ENSP00000513240.1:p.Gln479=
ENST00000697306.1:c.*748A=	ENSP00000513241.1:n.*748A=
ENST00000697307.1:c.1748A=	ENSP00000513242.1:p.Gln583=
ENST00000697308.1:c.1748A=	ENSP00000513243.1:p.Gln583=
ENST00000697309.1:c.1748A=	ENSP00000513244.1:p.Gln583=
ENST00000697310.1:c.1748A=	ENSP00000513245.1:p.Gln583=
ENST00000697311.1:c.1748A=	ENSP00000513246.1:p.Gln583=
ENST00000697312.1:c.*1146A=	ENSP00000513247.1:n.*1146A=
ENST00000697313.1:n.2687+17023A=
ENST00000697314.1:n.3539A=
ENST00000697315.1:c.1748A=	ENSP00000513248.1:p.Gln583=
ENST00000697316.1:n.1869A=
ENST00000697317.1:n.1858A=
ENST00000697318.1:n.1860A=
ENST00000265433.8:c.1748A= MANE Select	ENSP00000265433.4:p.Gln583=
ENST00000265433.7:c.1748A=	ENSP00000265433.3:p.Gln583=
ENST00000396252.6:c.*1621A=	ENSP00000379551.2:n.*1621A=
ENST00000409330.5:c.1502A=	ENSP00000386924.1:p.Gln501=
ENST00000613033.1:c.14A=	ENSP00000484487.1:p.Gln5=
NM_001024688.2:c.1502A=	NP_001019859.1:p.Gln501=
NM_002485.4:c.1748A= , LRG_158t1:c.1748A=	NP_002476.2:p.Gln583=
XM_011517044.1:c.1724A=	XP_011515346.1:p.Gln575=
XM_011517045.1:c.1502A=	XP_011515347.1:p.Gln501=
XR_928335.1:n.1887A=
XM_017013460.1:c.869A=	XP_016868949.1:p.Gln290=
XM_017013462.2:c.869A=	XP_016868951.1:p.Gln290=
XM_024447163.1:c.1502A=	XP_024302931.1:p.Gln501=
XM_024447164.1:c.1502A=	XP_024302932.1:p.Gln501=
XM_024447165.1:c.869A=	XP_024302933.1:p.Gln290=
NM_002485.5:c.1748A= MANE Select	NP_002476.2:p.Gln583=
NM_001024688.3:c.1502A=	NP_001019859.1:p.Gln501=