Canonical Allele Identifier: CA2573143330

Gene: NBN

Linked Data

• ClinVar Variation Id: 1490827
• ClinVar RCV Id: RCV001986072
• dbSNP Id: rs2130739402

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937073dup , CM000670.2:g.89937073dup	GRCh38
NC_000008.10:g.90949301dup , CM000670.1:g.90949301dup	GRCh37
NC_000008.9:g.91018477dup	NCBI36
NG_008860.1:g.52599dup , LRG_158:g.52599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3607dup
ENST00000494804.2:n.3489dup
ENST00000517337.2:c.1941dup	ENSP00000429971.2:p.Gln648ThrfsTer12
ENST00000523444.2:c.1941dup	ENSP00000428252.2:p.Gln648ThrfsTer12
ENST00000697292.1:c.2187dup	ENSP00000513229.1:p.Gln730ThrfsTer12
ENST00000697293.1:c.2238dup	ENSP00000513230.1:p.Gln747ThrfsTer12
ENST00000697294.1:c.*1798dup	ENSP00000513231.1:n.*1798dup
ENST00000697295.1:c.*1496dup	ENSP00000513232.1:n.*1496dup
ENST00000697296.1:c.*1855dup	ENSP00000513233.1:n.*1855dup
ENST00000697297.1:n.3972dup
ENST00000697298.1:c.1941dup	ENSP00000513234.1:p.Gln648ThrfsTer12
ENST00000697299.1:c.1941dup	ENSP00000513235.1:p.Gln648ThrfsTer12
ENST00000697300.1:c.*1791dup	ENSP00000513236.1:n.*1791dup
ENST00000697301.1:c.*1708dup	ENSP00000513237.1:n.*1708dup
ENST00000697302.1:c.*1708dup	ENSP00000513238.1:n.*1708dup
ENST00000697303.1:c.*1791dup	ENSP00000513239.1:n.*1791dup
ENST00000697304.1:c.1875dup	ENSP00000513240.1:p.Gln626ThrfsTer12
ENST00000697305.1:n.2454dup
ENST00000697306.1:c.*2738dup	ENSP00000513241.1:n.*2738dup
ENST00000697307.1:c.1962dup	ENSP00000513242.1:p.Gln655ThrfsTer12
ENST00000697308.1:c.2118dup	ENSP00000513243.1:p.Gln707ThrfsTer12
ENST00000697309.1:c.2185-1461dup	ENSP00000513244.1:n.2185-1461dup
ENST00000697310.1:c.2187dup	ENSP00000513245.1:p.Gln730ThrfsTer12
ENST00000697311.1:c.*452dup	ENSP00000513246.1:n.*452dup
ENST00000697312.1:c.*1640dup	ENSP00000513247.1:n.*1640dup
ENST00000697313.1:n.2688-1461dup
ENST00000697314.1:n.3637-1461dup
ENST00000697315.1:c.*91dup	ENSP00000513248.1:n.*91dup
ENST00000697316.1:n.2308dup
ENST00000265433.8:c.2187dup MANE Select	ENSP00000265433.4:p.Gln730ThrfsTer12
ENST00000265433.7:c.2187dup	ENSP00000265433.3:p.Gln730ThrfsTer12
ENST00000396252.6:c.*2060dup	ENSP00000379551.2:n.*2060dup
ENST00000409330.5:c.1941dup	ENSP00000386924.1:p.Gln648ThrfsTer12
ENST00000474821.1:n.275dup
ENST00000613033.1:c.297dup	ENSP00000484487.1:p.Gln100ThrfsTer12
NM_001024688.2:c.1941dup	NP_001019859.1:p.Gln648ThrfsTer12
NM_002485.4:c.2187dup , LRG_158t1:c.2187dup	NP_002476.2:p.Gln730ThrfsTer12
XM_011517044.1:c.2163dup	XP_011515346.1:p.Gln722ThrfsTer12
XM_011517045.1:c.1941dup	XP_011515347.1:p.Gln648ThrfsTer12
XM_017013460.1:c.1308dup	XP_016868949.1:p.Gln437ThrfsTer12
XM_017013462.2:c.1308dup	XP_016868951.1:p.Gln437ThrfsTer12
XM_024447163.1:c.1941dup	XP_024302931.1:p.Gln648ThrfsTer12
XM_024447164.1:c.1941dup	XP_024302932.1:p.Gln648ThrfsTer12
XM_024447165.1:c.1308dup	XP_024302933.1:p.Gln437ThrfsTer12
NM_002485.5:c.2187dup MANE Select	NP_002476.2:p.Gln730ThrfsTer12
NM_001024688.3:c.1941dup	NP_001019859.1:p.Gln648ThrfsTer12