Canonical Allele Identifier: CA1801419519

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946208_89946210delinsTAG , CM000670.2:g.89946208_89946210delinsTAG	GRCh38
NC_000008.10:g.90958436_90958438delinsTAG , CM000670.1:g.90958436_90958438delinsTAG	GRCh37
NC_000008.9:g.91027612_91027614delinsTAG	NCBI36
NG_008860.1:g.43462_43464delinsCTA , LRG_158:g.43462_43464delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3302_3304delinsCTA
ENST00000517337.2:c.1754_1756delinsCTA	ENSP00000429971.2:p.Ser585=
ENST00000523444.2:c.1754_1756delinsCTA	ENSP00000428252.2:p.Ser585=
ENST00000697292.1:c.2000_2002delinsCTA	ENSP00000513229.1:p.Ser667=
ENST00000697293.1:c.2000_2002delinsCTA	ENSP00000513230.1:p.Ser667=
ENST00000697294.1:c.*1611_*1613delinsCTA	ENSP00000513231.1:n.*1611_*1613delinsCTA
ENST00000697295.1:c.*1309_*1311delinsCTA	ENSP00000513232.1:n.*1309_*1311delinsCTA
ENST00000697296.1:c.*1668_*1670delinsCTA	ENSP00000513233.1:n.*1668_*1670delinsCTA
ENST00000697297.1:n.3785_3787delinsCTA
ENST00000697298.1:c.1754_1756delinsCTA	ENSP00000513234.1:p.Ser585=
ENST00000697299.1:c.1754_1756delinsCTA	ENSP00000513235.1:p.Ser585=
ENST00000697300.1:c.*1604_*1606delinsCTA	ENSP00000513236.1:n.*1604_*1606delinsCTA
ENST00000697301.1:c.*1521_*1523delinsCTA	ENSP00000513237.1:n.*1521_*1523delinsCTA
ENST00000697302.1:c.*1521_*1523delinsCTA	ENSP00000513238.1:n.*1521_*1523delinsCTA
ENST00000697303.1:c.*1604_*1606delinsCTA	ENSP00000513239.1:n.*1604_*1606delinsCTA
ENST00000697304.1:c.1688_1690delinsCTA	ENSP00000513240.1:p.Ser563=
ENST00000697306.1:c.*2551_*2553delinsCTA	ENSP00000513241.1:n.*2551_*2553delinsCTA
ENST00000697307.1:c.1846-2844_1846-2842delinsCTA	ENSP00000513242.1:n.1846-2844_1846-2842delinsCTA
ENST00000697308.1:c.1931_1933delinsCTA	ENSP00000513243.1:p.Ser644=
ENST00000697309.1:c.2000_2002delinsCTA	ENSP00000513244.1:p.Ser667=
ENST00000697310.1:c.2000_2002delinsCTA	ENSP00000513245.1:p.Ser667=
ENST00000697311.1:c.2000_2002delinsCTA	ENSP00000513246.1:p.Ser667=
ENST00000697312.1:c.*1398_*1400delinsCTA	ENSP00000513247.1:n.*1398_*1400delinsCTA
ENST00000697313.1:n.2688-10598_2688-10596delinsCTA
ENST00000697314.1:n.3636+7034_3636+7036delinsCTA
ENST00000697315.1:c.2000_2002delinsCTA	ENSP00000513248.1:p.Ser667=
ENST00000697316.1:n.2121_2123delinsCTA
ENST00000697317.1:n.2091_2093delinsCTA
ENST00000265433.8:c.2000_2002delinsCTA MANE Select	ENSP00000265433.4:p.Ser667=
ENST00000265433.7:c.2000_2002delinsCTA	ENSP00000265433.3:p.Ser667=
ENST00000396252.6:c.*1873_*1875delinsCTA	ENSP00000379551.2:n.*1873_*1875delinsCTA
ENST00000409330.5:c.1754_1756delinsCTA	ENSP00000386924.1:p.Ser585=
ENST00000520325.1:n.416_418delinsCTA
ENST00000613033.1:c.180+1614_180+1616delinsCTA	ENSP00000484487.1:n.180+1614_180+1616delinsCTA
NM_001024688.2:c.1754_1756delinsCTA	NP_001019859.1:p.Ser585=
NM_002485.4:c.2000_2002delinsCTA , LRG_158t1:c.2000_2002delinsCTA	NP_002476.2:p.Ser667=
XM_011517044.1:c.1976_1978delinsCTA	XP_011515346.1:p.Ser659=
XM_011517045.1:c.1754_1756delinsCTA	XP_011515347.1:p.Ser585=
XM_017013460.1:c.1121_1123delinsCTA	XP_016868949.1:p.Ser374=
XM_017013462.2:c.1121_1123delinsCTA	XP_016868951.1:p.Ser374=
XM_024447163.1:c.1754_1756delinsCTA	XP_024302931.1:p.Ser585=
XM_024447164.1:c.1754_1756delinsCTA	XP_024302932.1:p.Ser585=
XM_024447165.1:c.1121_1123delinsCTA	XP_024302933.1:p.Ser374=
NM_002485.5:c.2000_2002delinsCTA MANE Select	NP_002476.2:p.Ser667=
NM_001024688.3:c.1754_1756delinsCTA	NP_001019859.1:p.Ser585=