Canonical Allele Identifier: CA1801516708

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978260T= , CM000670.2:g.89978260T=	GRCh38
NC_000008.10:g.90990488T= , CM000670.1:g.90990488T=	GRCh37
NC_000008.9:g.91059664T=	NCBI36
NG_008860.1:g.11412A= , LRG_158:g.11412A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1846A=
ENST00000517337.2:c.298A=	ENSP00000429971.2:p.Lys100=
ENST00000523444.2:c.298A=	ENSP00000428252.2:p.Lys100=
ENST00000697292.1:c.544A=	ENSP00000513229.1:p.Lys182=
ENST00000697293.1:c.544A=	ENSP00000513230.1:p.Lys182=
ENST00000697294.1:c.*155A=	ENSP00000513231.1:n.*155A=
ENST00000697295.1:c.37+6265A=	ENSP00000513232.1:n.37+6265A=
ENST00000697296.1:c.*212A=	ENSP00000513233.1:n.*212A=
ENST00000697297.1:n.2329A=
ENST00000697298.1:c.298A=	ENSP00000513234.1:p.Lys100=
ENST00000697299.1:c.298A=	ENSP00000513235.1:p.Lys100=
ENST00000697300.1:c.*148A=	ENSP00000513236.1:n.*148A=
ENST00000697301.1:c.*65A=	ENSP00000513237.1:n.*65A=
ENST00000697302.1:c.*65A=	ENSP00000513238.1:n.*65A=
ENST00000697303.1:c.*148A=	ENSP00000513239.1:n.*148A=
ENST00000697304.1:c.544A=	ENSP00000513240.1:p.Lys182=
ENST00000697306.1:c.480+2474A=	ENSP00000513241.1:n.480+2474A=
ENST00000697307.1:c.544A=	ENSP00000513242.1:p.Lys182=
ENST00000697308.1:c.544A=	ENSP00000513243.1:p.Lys182=
ENST00000697309.1:c.544A=	ENSP00000513244.1:p.Lys182=
ENST00000697310.1:c.544A=	ENSP00000513245.1:p.Lys182=
ENST00000697311.1:c.544A=	ENSP00000513246.1:p.Lys182=
ENST00000697312.1:c.480+2474A=	ENSP00000513247.1:n.480+2474A=
ENST00000697313.1:n.2335A=
ENST00000697314.1:n.2335A=
ENST00000697315.1:c.544A=	ENSP00000513248.1:p.Lys182=
ENST00000697316.1:n.665A=
ENST00000697317.1:n.654A=
ENST00000697318.1:n.656A=
ENST00000265433.8:c.544A= MANE Select	ENSP00000265433.4:p.Lys182=
ENST00000265433.7:c.544A=	ENSP00000265433.3:p.Lys182=
ENST00000396252.6:c.*417A=	ENSP00000379551.2:n.*417A=
ENST00000409330.5:c.298A=	ENSP00000386924.1:p.Lys100=
ENST00000517772.5:c.298A=	ENSP00000428717.1:p.Lys100=
ENST00000519426.5:c.320+3115A=	ENSP00000430983.1:n.320+3115A=
NM_001024688.2:c.298A=	NP_001019859.1:p.Lys100=
NM_002485.4:c.544A= , LRG_158t1:c.544A=	NP_002476.2:p.Lys182=
XM_011517044.1:c.520A=	XP_011515346.1:p.Lys174=
XM_011517045.1:c.298A=	XP_011515347.1:p.Lys100=
XM_011517046.1:c.544A=	XP_011515348.1:p.Lys182=
XR_928335.1:n.681A=
XM_017013460.1:c.-336A=	XP_016868949.1:n.-336A=
XM_017013462.2:c.-296+2474A=	XP_016868951.1:n.-296+2474A=
XM_024447163.1:c.298A=	XP_024302931.1:p.Lys100=
XM_024447164.1:c.298A=	XP_024302932.1:p.Lys100=
XM_024447165.1:c.-336A=	XP_024302933.1:n.-336A=
NM_002485.5:c.544A= MANE Select	NP_002476.2:p.Lys182=
NM_001024688.3:c.298A=	NP_001019859.1:p.Lys100=