Canonical Allele Identifier: CA2580078998

Gene: NBN

Linked Data

• ClinVar Variation Id: 1787780
• ClinVar RCV Id: RCV002425877

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937047_89937048delinsCT , CM000670.2:g.89937047_89937048delinsCT	GRCh38
NC_000008.10:g.90949275_90949276delinsCT , CM000670.1:g.90949275_90949276delinsCT	GRCh37
NC_000008.9:g.91018451_91018452delinsCT	NCBI36
NG_008860.1:g.52624_52625delinsAG , LRG_158:g.52624_52625delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3632_3633delinsAG
ENST00000494804.2:n.3514_3515delinsAG
ENST00000517337.2:c.1966_1967delinsAG	ENSP00000429971.2:p.Ser656=
ENST00000523444.2:c.1966_1967delinsAG	ENSP00000428252.2:p.Ser656=
ENST00000697292.1:c.2212_2213delinsAG	ENSP00000513229.1:p.Ser738=
ENST00000697293.1:c.2263_2264delinsAG	ENSP00000513230.1:p.Ser755=
ENST00000697294.1:c.*1823_*1824delinsAG	ENSP00000513231.1:n.*1823_*1824delinsAG
ENST00000697295.1:c.*1521_*1522delinsAG	ENSP00000513232.1:n.*1521_*1522delinsAG
ENST00000697296.1:c.*1880_*1881delinsAG	ENSP00000513233.1:n.*1880_*1881delinsAG
ENST00000697297.1:n.3997_3998delinsAG
ENST00000697298.1:c.1966_1967delinsAG	ENSP00000513234.1:p.Ser656=
ENST00000697299.1:c.1966_1967delinsAG	ENSP00000513235.1:p.Ser656=
ENST00000697300.1:c.*1816_*1817delinsAG	ENSP00000513236.1:n.*1816_*1817delinsAG
ENST00000697301.1:c.*1733_*1734delinsAG	ENSP00000513237.1:n.*1733_*1734delinsAG
ENST00000697302.1:c.*1733_*1734delinsAG	ENSP00000513238.1:n.*1733_*1734delinsAG
ENST00000697303.1:c.*1816_*1817delinsAG	ENSP00000513239.1:n.*1816_*1817delinsAG
ENST00000697304.1:c.1900_1901delinsAG	ENSP00000513240.1:p.Ser634=
ENST00000697305.1:n.2479_2480delinsAG
ENST00000697306.1:c.*2763_*2764delinsAG	ENSP00000513241.1:n.*2763_*2764delinsAG
ENST00000697307.1:c.1987_1988delinsAG	ENSP00000513242.1:p.Ser663=
ENST00000697308.1:c.2143_2144delinsAG	ENSP00000513243.1:p.Ser715=
ENST00000697309.1:c.2185-1436_2185-1435delinsAG	ENSP00000513244.1:n.2185-1436_2185-1435delinsAG
ENST00000697310.1:c.2212_2213delinsAG	ENSP00000513245.1:p.Ser738=
ENST00000697311.1:c.*477_*478delinsAG	ENSP00000513246.1:n.*477_*478delinsAG
ENST00000697312.1:c.*1665_*1666delinsAG	ENSP00000513247.1:n.*1665_*1666delinsAG
ENST00000697313.1:n.2688-1436_2688-1435delinsAG
ENST00000697314.1:n.3637-1436_3637-1435delinsAG
ENST00000697315.1:c.*116_*117delinsAG	ENSP00000513248.1:n.*116_*117delinsAG
ENST00000697316.1:n.2333_2334delinsAG
ENST00000265433.8:c.2212_2213delinsAG MANE Select	ENSP00000265433.4:p.Ser738=
ENST00000265433.7:c.2212_2213delinsAG	ENSP00000265433.3:p.Ser738=
ENST00000396252.6:c.*2085_*2086delinsAG	ENSP00000379551.2:n.*2085_*2086delinsAG
ENST00000409330.5:c.1966_1967delinsAG	ENSP00000386924.1:p.Ser656=
ENST00000474821.1:n.300_301delinsAG
ENST00000613033.1:c.322_323delinsAG	ENSP00000484487.1:p.Ser108=
NM_001024688.2:c.1966_1967delinsAG	NP_001019859.1:p.Ser656=
NM_002485.4:c.2212_2213delinsAG , LRG_158t1:c.2212_2213delinsAG	NP_002476.2:p.Ser738=
XM_011517044.1:c.2188_2189delinsAG	XP_011515346.1:p.Ser730=
XM_011517045.1:c.1966_1967delinsAG	XP_011515347.1:p.Ser656=
XM_017013460.1:c.1333_1334delinsAG	XP_016868949.1:p.Ser445=
XM_017013462.2:c.1333_1334delinsAG	XP_016868951.1:p.Ser445=
XM_024447163.1:c.1966_1967delinsAG	XP_024302931.1:p.Ser656=
XM_024447164.1:c.1966_1967delinsAG	XP_024302932.1:p.Ser656=
XM_024447165.1:c.1333_1334delinsAG	XP_024302933.1:p.Ser445=
NM_002485.5:c.2212_2213delinsAG MANE Select	NP_002476.2:p.Ser738=
NM_001024688.3:c.1966_1967delinsAG	NP_001019859.1:p.Ser656=