Canonical Allele Identifier: CA1801420262

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89947825G= , CM000670.2:g.89947825G=	GRCh38
NC_000008.10:g.90960053G= , CM000670.1:g.90960053G=	GRCh37
NC_000008.9:g.91029229G=	NCBI36
NG_008860.1:g.41847C= , LRG_158:g.41847C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3215C=
ENST00000517337.2:c.1667C=	ENSP00000429971.2:p.Ser556=
ENST00000523444.2:c.1667C=	ENSP00000428252.2:p.Ser556=
ENST00000697292.1:c.1913C=	ENSP00000513229.1:p.Ser638=
ENST00000697293.1:c.1913C=	ENSP00000513230.1:p.Ser638=
ENST00000697294.1:c.*1524C=	ENSP00000513231.1:n.*1524C=
ENST00000697295.1:c.*1222C=	ENSP00000513232.1:n.*1222C=
ENST00000697296.1:c.*1581C=	ENSP00000513233.1:n.*1581C=
ENST00000697297.1:n.3698C=
ENST00000697298.1:c.1667C=	ENSP00000513234.1:p.Ser556=
ENST00000697299.1:c.1667C=	ENSP00000513235.1:p.Ser556=
ENST00000697300.1:c.*1517C=	ENSP00000513236.1:n.*1517C=
ENST00000697301.1:c.*1434C=	ENSP00000513237.1:n.*1434C=
ENST00000697302.1:c.*1434C=	ENSP00000513238.1:n.*1434C=
ENST00000697303.1:c.*1517C=	ENSP00000513239.1:n.*1517C=
ENST00000697304.1:c.1601C=	ENSP00000513240.1:p.Ser534=
ENST00000697306.1:c.*936C=	ENSP00000513241.1:n.*936C=
ENST00000697307.1:c.1846-4459C=	ENSP00000513242.1:n.1846-4459C=
ENST00000697308.1:c.1846-1530C=	ENSP00000513243.1:n.1846-1530C=
ENST00000697309.1:c.1913C=	ENSP00000513244.1:p.Ser638=
ENST00000697310.1:c.1913C=	ENSP00000513245.1:p.Ser638=
ENST00000697311.1:c.1913C=	ENSP00000513246.1:p.Ser638=
ENST00000697312.1:c.*1311C=	ENSP00000513247.1:n.*1311C=
ENST00000697313.1:n.2688-12213C=
ENST00000697314.1:n.3636+5419C=
ENST00000697315.1:c.1913C=	ENSP00000513248.1:p.Ser638=
ENST00000697316.1:n.2034C=
ENST00000697317.1:n.2005+18C=
ENST00000265433.8:c.1913C= MANE Select	ENSP00000265433.4:p.Ser638=
ENST00000265433.7:c.1913C=	ENSP00000265433.3:p.Ser638=
ENST00000396252.6:c.*1786C=	ENSP00000379551.2:n.*1786C=
ENST00000409330.5:c.1667C=	ENSP00000386924.1:p.Ser556=
ENST00000613033.1:c.179C=	ENSP00000484487.1:p.Ser60=
NM_001024688.2:c.1667C=	NP_001019859.1:p.Ser556=
NM_002485.4:c.1913C= , LRG_158t1:c.1913C=	NP_002476.2:p.Ser638=
XM_011517044.1:c.1889C=	XP_011515346.1:p.Ser630=
XM_011517045.1:c.1667C=	XP_011515347.1:p.Ser556=
XR_928335.1:n.2052C=
XM_017013460.1:c.1034C=	XP_016868949.1:p.Ser345=
XM_017013462.2:c.1034C=	XP_016868951.1:p.Ser345=
XM_024447163.1:c.1667C=	XP_024302931.1:p.Ser556=
XM_024447164.1:c.1667C=	XP_024302932.1:p.Ser556=
XM_024447165.1:c.1034C=	XP_024302933.1:p.Ser345=
NM_002485.5:c.1913C= MANE Select	NP_002476.2:p.Ser638=
NM_001024688.3:c.1667C=	NP_001019859.1:p.Ser556=