Canonical Allele Identifier: CA1801505345

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970403T= , CM000670.2:g.89970403T=	GRCh38
NC_000008.10:g.90982631T= , CM000670.1:g.90982631T=	GRCh37
NC_000008.9:g.91051807T=	NCBI36
NG_008860.1:g.19269A= , LRG_158:g.19269A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2159A=
ENST00000517337.2:c.611A=	ENSP00000429971.2:p.Gln204=
ENST00000523444.2:c.611A=	ENSP00000428252.2:p.Gln204=
ENST00000697292.1:c.857A=	ENSP00000513229.1:p.Gln286=
ENST00000697293.1:c.857A=	ENSP00000513230.1:p.Gln286=
ENST00000697294.1:c.*468A=	ENSP00000513231.1:n.*468A=
ENST00000697295.1:c.*166A=	ENSP00000513232.1:n.*166A=
ENST00000697296.1:c.*525A=	ENSP00000513233.1:n.*525A=
ENST00000697297.1:n.2642A=
ENST00000697298.1:c.611A=	ENSP00000513234.1:p.Gln204=
ENST00000697299.1:c.611A=	ENSP00000513235.1:p.Gln204=
ENST00000697300.1:c.*461A=	ENSP00000513236.1:n.*461A=
ENST00000697301.1:c.*378A=	ENSP00000513237.1:n.*378A=
ENST00000697302.1:c.*378A=	ENSP00000513238.1:n.*378A=
ENST00000697303.1:c.*461A=	ENSP00000513239.1:n.*461A=
ENST00000697304.1:c.585-5896A=	ENSP00000513240.1:n.585-5896A=
ENST00000697306.1:c.480+10331A=	ENSP00000513241.1:n.480+10331A=
ENST00000697307.1:c.857A=	ENSP00000513242.1:p.Gln286=
ENST00000697308.1:c.857A=	ENSP00000513243.1:p.Gln286=
ENST00000697309.1:c.857A=	ENSP00000513244.1:p.Gln286=
ENST00000697310.1:c.857A=	ENSP00000513245.1:p.Gln286=
ENST00000697311.1:c.857A=	ENSP00000513246.1:p.Gln286=
ENST00000697312.1:c.*255A=	ENSP00000513247.1:n.*255A=
ENST00000697313.1:n.2648A=
ENST00000697314.1:n.2648A=
ENST00000697315.1:c.857A=	ENSP00000513248.1:p.Gln286=
ENST00000697316.1:n.978A=
ENST00000697317.1:n.967A=
ENST00000697318.1:n.969A=
ENST00000265433.8:c.857A= MANE Select	ENSP00000265433.4:p.Gln286=
ENST00000265433.7:c.857A=	ENSP00000265433.3:p.Gln286=
ENST00000396252.6:c.*730A=	ENSP00000379551.2:n.*730A=
ENST00000409330.5:c.611A=	ENSP00000386924.1:p.Gln204=
NM_001024688.2:c.611A=	NP_001019859.1:p.Gln204=
NM_002485.4:c.857A= , LRG_158t1:c.857A=	NP_002476.2:p.Gln286=
XM_011517044.1:c.833A=	XP_011515346.1:p.Gln278=
XM_011517045.1:c.611A=	XP_011515347.1:p.Gln204=
XM_011517046.1:c.857A=	XP_011515348.1:p.Gln286=
XR_928335.1:n.994A=
XM_017013460.1:c.-23A=	XP_016868949.1:n.-23A=
XM_017013462.2:c.-23A=	XP_016868951.1:n.-23A=
XM_024447163.1:c.611A=	XP_024302931.1:p.Gln204=
XM_024447164.1:c.611A=	XP_024302932.1:p.Gln204=
XM_024447165.1:c.-23A=	XP_024302933.1:n.-23A=
NM_002485.5:c.857A= MANE Select	NP_002476.2:p.Gln286=
NM_001024688.3:c.611A=	NP_001019859.1:p.Gln204=