Canonical Allele Identifier: CA2573143341

Gene: NBN

Linked Data

• ClinVar Variation Id: 1455009
• ClinVar RCV Id: RCV001942161
• dbSNP Id: rs2129647777

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946219dup , CM000670.2:g.89946219dup	GRCh38
NC_000008.10:g.90958447dup , CM000670.1:g.90958447dup	GRCh37
NC_000008.9:g.91027623dup	NCBI36
NG_008860.1:g.43454dup , LRG_158:g.43454dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.3294dup
ENST00000517337.2:c.1746dup	ENSP00000429971.2:p.Lys583Ter
ENST00000523444.2:c.1746dup	ENSP00000428252.2:p.Lys583Ter
ENST00000697292.1:c.1992dup	ENSP00000513229.1:p.Lys665Ter
ENST00000697293.1:c.1992dup	ENSP00000513230.1:p.Lys665Ter
ENST00000697294.1:c.*1603dup	ENSP00000513231.1:n.*1603dup
ENST00000697295.1:c.*1301dup	ENSP00000513232.1:n.*1301dup
ENST00000697296.1:c.*1660dup	ENSP00000513233.1:n.*1660dup
ENST00000697297.1:n.3777dup
ENST00000697298.1:c.1746dup	ENSP00000513234.1:p.Lys583Ter
ENST00000697299.1:c.1746dup	ENSP00000513235.1:p.Lys583Ter
ENST00000697300.1:c.*1596dup	ENSP00000513236.1:n.*1596dup
ENST00000697301.1:c.*1513dup	ENSP00000513237.1:n.*1513dup
ENST00000697302.1:c.*1513dup	ENSP00000513238.1:n.*1513dup
ENST00000697303.1:c.*1596dup	ENSP00000513239.1:n.*1596dup
ENST00000697304.1:c.1680dup	ENSP00000513240.1:p.Lys561Ter
ENST00000697306.1:c.*2543dup	ENSP00000513241.1:n.*2543dup
ENST00000697307.1:c.1846-2852dup	ENSP00000513242.1:n.1846-2852dup
ENST00000697308.1:c.1923dup	ENSP00000513243.1:p.Lys642Ter
ENST00000697309.1:c.1992dup	ENSP00000513244.1:p.Lys665Ter
ENST00000697310.1:c.1992dup	ENSP00000513245.1:p.Lys665Ter
ENST00000697311.1:c.1992dup	ENSP00000513246.1:p.Lys665Ter
ENST00000697312.1:c.*1390dup	ENSP00000513247.1:n.*1390dup
ENST00000697313.1:n.2688-10606dup
ENST00000697314.1:n.3636+7026dup
ENST00000697315.1:c.1992dup	ENSP00000513248.1:p.Lys665Ter
ENST00000697316.1:n.2113dup
ENST00000697317.1:n.2083dup
ENST00000265433.8:c.1992dup MANE Select	ENSP00000265433.4:p.Lys665Ter
ENST00000265433.7:c.1992dup	ENSP00000265433.3:p.Lys665Ter
ENST00000396252.6:c.*1865dup	ENSP00000379551.2:n.*1865dup
ENST00000409330.5:c.1746dup	ENSP00000386924.1:p.Lys583Ter
ENST00000520325.1:n.408dup
ENST00000613033.1:c.180+1606dup	ENSP00000484487.1:n.180+1606dup
NM_001024688.2:c.1746dup	NP_001019859.1:p.Lys583Ter
NM_002485.4:c.1992dup , LRG_158t1:c.1992dup	NP_002476.2:p.Lys665Ter
XM_011517044.1:c.1968dup	XP_011515346.1:p.Lys657Ter
XM_011517045.1:c.1746dup	XP_011515347.1:p.Lys583Ter
XM_017013460.1:c.1113dup	XP_016868949.1:p.Lys372Ter
XM_017013462.2:c.1113dup	XP_016868951.1:p.Lys372Ter
XM_024447163.1:c.1746dup	XP_024302931.1:p.Lys583Ter
XM_024447164.1:c.1746dup	XP_024302932.1:p.Lys583Ter
XM_024447165.1:c.1113dup	XP_024302933.1:p.Lys372Ter
NM_002485.5:c.1992dup MANE Select	NP_002476.2:p.Lys665Ter
NM_001024688.3:c.1746dup	NP_001019859.1:p.Lys583Ter