Canonical Allele Identifier: CA2839062755

Gene: NBN

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946249_89946250insAA , CM000670.2:g.89946249_89946250insAA	GRCh38
NC_000008.10:g.90958477_90958478insAA , CM000670.1:g.90958477_90958478insAA	GRCh37
NC_000008.9:g.91027653_91027654insAA	NCBI36
NG_008860.1:g.43423_43424insTT , LRG_158:g.43423_43424insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3263_3264insTT
ENST00000517337.2:c.1715_1716insTT	ENSP00000429971.2:p.Leu573CysfsTer3
ENST00000523444.2:c.1715_1716insTT	ENSP00000428252.2:p.Leu573CysfsTer3
ENST00000697292.1:c.1961_1962insTT	ENSP00000513229.1:p.Leu655CysfsTer3
ENST00000697293.1:c.1961_1962insTT	ENSP00000513230.1:p.Leu655CysfsTer3
ENST00000697294.1:c.*1572_*1573insTT	ENSP00000513231.1:n.*1572_*1573insTT
ENST00000697295.1:c.*1270_*1271insTT	ENSP00000513232.1:n.*1270_*1271insTT
ENST00000697296.1:c.*1629_*1630insTT	ENSP00000513233.1:n.*1629_*1630insTT
ENST00000697297.1:n.3746_3747insTT
ENST00000697298.1:c.1715_1716insTT	ENSP00000513234.1:p.Leu573CysfsTer3
ENST00000697299.1:c.1715_1716insTT	ENSP00000513235.1:p.Leu573CysfsTer3
ENST00000697300.1:c.*1565_*1566insTT	ENSP00000513236.1:n.*1565_*1566insTT
ENST00000697301.1:c.*1482_*1483insTT	ENSP00000513237.1:n.*1482_*1483insTT
ENST00000697302.1:c.*1482_*1483insTT	ENSP00000513238.1:n.*1482_*1483insTT
ENST00000697303.1:c.*1565_*1566insTT	ENSP00000513239.1:n.*1565_*1566insTT
ENST00000697304.1:c.1649_1650insTT	ENSP00000513240.1:p.Leu551CysfsTer3
ENST00000697306.1:c.*2512_*2513insTT	ENSP00000513241.1:n.*2512_*2513insTT
ENST00000697307.1:c.1846-2883_1846-2882insTT	ENSP00000513242.1:n.1846-2883_1846-2882insTT
ENST00000697308.1:c.1892_1893insTT	ENSP00000513243.1:p.Leu632CysfsTer3
ENST00000697309.1:c.1961_1962insTT	ENSP00000513244.1:p.Leu655CysfsTer3
ENST00000697310.1:c.1961_1962insTT	ENSP00000513245.1:p.Leu655CysfsTer3
ENST00000697311.1:c.1961_1962insTT	ENSP00000513246.1:p.Leu655CysfsTer3
ENST00000697312.1:c.*1359_*1360insTT	ENSP00000513247.1:n.*1359_*1360insTT
ENST00000697313.1:n.2688-10637_2688-10636insTT
ENST00000697314.1:n.3636+6995_3636+6996insTT
ENST00000697315.1:c.1961_1962insTT	ENSP00000513248.1:p.Leu655CysfsTer3
ENST00000697316.1:n.2082_2083insTT
ENST00000697317.1:n.2052_2053insTT
ENST00000265433.8:c.1961_1962insTT MANE Select	ENSP00000265433.4:p.Leu655CysfsTer3
ENST00000265433.7:c.1961_1962insTT	ENSP00000265433.3:p.Leu655CysfsTer3
ENST00000396252.6:c.*1834_*1835insTT	ENSP00000379551.2:n.*1834_*1835insTT
ENST00000409330.5:c.1715_1716insTT	ENSP00000386924.1:p.Leu573CysfsTer3
ENST00000520325.1:n.377_378insTT
ENST00000613033.1:c.180+1575_180+1576insTT	ENSP00000484487.1:n.180+1575_180+1576insTT
NM_001024688.2:c.1715_1716insTT	NP_001019859.1:p.Leu573CysfsTer3
NM_002485.4:c.1961_1962insTT , LRG_158t1:c.1961_1962insTT	NP_002476.2:p.Leu655CysfsTer3
XM_011517044.1:c.1937_1938insTT	XP_011515346.1:p.Leu647CysfsTer3
XM_011517045.1:c.1715_1716insTT	XP_011515347.1:p.Leu573CysfsTer3
XM_017013460.1:c.1082_1083insTT	XP_016868949.1:p.Leu362CysfsTer3
XM_017013462.2:c.1082_1083insTT	XP_016868951.1:p.Leu362CysfsTer3
XM_024447163.1:c.1715_1716insTT	XP_024302931.1:p.Leu573CysfsTer3
XM_024447164.1:c.1715_1716insTT	XP_024302932.1:p.Leu573CysfsTer3
XM_024447165.1:c.1082_1083insTT	XP_024302933.1:p.Leu362CysfsTer3
NM_002485.5:c.1961_1962insTT MANE Select	NP_002476.2:p.Leu655CysfsTer3
NM_001024688.3:c.1715_1716insTT	NP_001019859.1:p.Leu573CysfsTer3