Canonical Allele Identifier: CA1801506194

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970546C= , CM000670.2:g.89970546C=	GRCh38
NC_000008.10:g.90982774C= , CM000670.1:g.90982774C=	GRCh37
NC_000008.9:g.91051950C=	NCBI36
NG_008860.1:g.19126G= , LRG_158:g.19126G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2016G=
ENST00000517337.2:c.468G=	ENSP00000429971.2:p.Leu156=
ENST00000523444.2:c.468G=	ENSP00000428252.2:p.Leu156=
ENST00000697292.1:c.714G=	ENSP00000513229.1:p.Leu238=
ENST00000697293.1:c.714G=	ENSP00000513230.1:p.Leu238=
ENST00000697294.1:c.*325G=	ENSP00000513231.1:n.*325G=
ENST00000697295.1:c.*23G=	ENSP00000513232.1:n.*23G=
ENST00000697296.1:c.*382G=	ENSP00000513233.1:n.*382G=
ENST00000697297.1:n.2499G=
ENST00000697298.1:c.468G=	ENSP00000513234.1:p.Leu156=
ENST00000697299.1:c.468G=	ENSP00000513235.1:p.Leu156=
ENST00000697300.1:c.*318G=	ENSP00000513236.1:n.*318G=
ENST00000697301.1:c.*235G=	ENSP00000513237.1:n.*235G=
ENST00000697302.1:c.*235G=	ENSP00000513238.1:n.*235G=
ENST00000697303.1:c.*318G=	ENSP00000513239.1:n.*318G=
ENST00000697304.1:c.585-6039G=	ENSP00000513240.1:n.585-6039G=
ENST00000697306.1:c.480+10188G=	ENSP00000513241.1:n.480+10188G=
ENST00000697307.1:c.714G=	ENSP00000513242.1:p.Leu238=
ENST00000697308.1:c.714G=	ENSP00000513243.1:p.Leu238=
ENST00000697309.1:c.714G=	ENSP00000513244.1:p.Leu238=
ENST00000697310.1:c.714G=	ENSP00000513245.1:p.Leu238=
ENST00000697311.1:c.714G=	ENSP00000513246.1:p.Leu238=
ENST00000697312.1:c.*112G=	ENSP00000513247.1:n.*112G=
ENST00000697313.1:n.2505G=
ENST00000697314.1:n.2505G=
ENST00000697315.1:c.714G=	ENSP00000513248.1:p.Leu238=
ENST00000697316.1:n.835G=
ENST00000697317.1:n.824G=
ENST00000697318.1:n.826G=
ENST00000265433.8:c.714G= MANE Select	ENSP00000265433.4:p.Leu238=
ENST00000265433.7:c.714G=	ENSP00000265433.3:p.Leu238=
ENST00000396252.6:c.*587G=	ENSP00000379551.2:n.*587G=
ENST00000409330.5:c.468G=	ENSP00000386924.1:p.Leu156=
ENST00000517772.5:c.468G=	ENSP00000428717.1:p.Leu156=
ENST00000519426.5:c.450G=	ENSP00000430983.1:p.Leu150=
NM_001024688.2:c.468G=	NP_001019859.1:p.Leu156=
NM_002485.4:c.714G= , LRG_158t1:c.714G=	NP_002476.2:p.Leu238=
XM_011517044.1:c.690G=	XP_011515346.1:p.Leu230=
XM_011517045.1:c.468G=	XP_011515347.1:p.Leu156=
XM_011517046.1:c.714G=	XP_011515348.1:p.Leu238=
XR_928335.1:n.851G=
XM_017013460.1:c.-166G=	XP_016868949.1:n.-166G=
XM_017013462.2:c.-166G=	XP_016868951.1:n.-166G=
XM_024447163.1:c.468G=	XP_024302931.1:p.Leu156=
XM_024447164.1:c.468G=	XP_024302932.1:p.Leu156=
XM_024447165.1:c.-166G=	XP_024302933.1:n.-166G=
NM_002485.5:c.714G= MANE Select	NP_002476.2:p.Leu238=
NM_001024688.3:c.468G=	NP_001019859.1:p.Leu156=