Canonical Allele Identifier: CA913187595

Gene: NBN

Linked Data

• ClinVar Variation Id: 627700
• ClinVar RCV Id: RCV000771415

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946194_89946195delinsCA , CM000670.2:g.89946194_89946195delinsCA	GRCh38
NC_000008.10:g.90958422_90958423delinsCA , CM000670.1:g.90958422_90958423delinsCA	GRCh37
NC_000008.9:g.91027598_91027599delinsCA	NCBI36
NG_008860.1:g.43477_43478delinsTG , LRG_158:g.43477_43478delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3317_3318delinsTG
ENST00000517337.2:c.1769_1770delinsTG	ENSP00000429971.2:p.Pro590Leu
ENST00000523444.2:c.1769_1770delinsTG	ENSP00000428252.2:p.Pro590Leu
ENST00000697292.1:c.2015_2016delinsTG	ENSP00000513229.1:p.Pro672Leu
ENST00000697293.1:c.2015_2016delinsTG	ENSP00000513230.1:p.Pro672Leu
ENST00000697294.1:c.*1626_*1627delinsTG	ENSP00000513231.1:n.*1626_*1627delinsTG
ENST00000697295.1:c.*1324_*1325delinsTG	ENSP00000513232.1:n.*1324_*1325delinsTG
ENST00000697296.1:c.*1683_*1684delinsTG	ENSP00000513233.1:n.*1683_*1684delinsTG
ENST00000697297.1:n.3800_3801delinsTG
ENST00000697298.1:c.1769_1770delinsTG	ENSP00000513234.1:p.Pro590Leu
ENST00000697299.1:c.1769_1770delinsTG	ENSP00000513235.1:p.Pro590Leu
ENST00000697300.1:c.*1619_*1620delinsTG	ENSP00000513236.1:n.*1619_*1620delinsTG
ENST00000697301.1:c.*1536_*1537delinsTG	ENSP00000513237.1:n.*1536_*1537delinsTG
ENST00000697302.1:c.*1536_*1537delinsTG	ENSP00000513238.1:n.*1536_*1537delinsTG
ENST00000697303.1:c.*1619_*1620delinsTG	ENSP00000513239.1:n.*1619_*1620delinsTG
ENST00000697304.1:c.1703_1704delinsTG	ENSP00000513240.1:p.Pro568Leu
ENST00000697306.1:c.*2566_*2567delinsTG	ENSP00000513241.1:n.*2566_*2567delinsTG
ENST00000697307.1:c.1846-2829_1846-2828delinsTG	ENSP00000513242.1:n.1846-2829_1846-2828delinsTG
ENST00000697308.1:c.1946_1947delinsTG	ENSP00000513243.1:p.Pro649Leu
ENST00000697309.1:c.2015_2016delinsTG	ENSP00000513244.1:p.Pro672Leu
ENST00000697310.1:c.2015_2016delinsTG	ENSP00000513245.1:p.Pro672Leu
ENST00000697311.1:c.2015_2016delinsTG	ENSP00000513246.1:p.Pro672Leu
ENST00000697312.1:c.*1413_*1414delinsTG	ENSP00000513247.1:n.*1413_*1414delinsTG
ENST00000697313.1:n.2688-10583_2688-10582delinsTG
ENST00000697314.1:n.3636+7049_3636+7050delinsTG
ENST00000697315.1:c.2015_2016delinsTG	ENSP00000513248.1:p.Pro672Leu
ENST00000697316.1:n.2136_2137delinsTG
ENST00000697317.1:n.2106_2107delinsTG
ENST00000265433.8:c.2015_2016delinsTG MANE Select	ENSP00000265433.4:p.Pro672Leu
ENST00000265433.7:c.2015_2016delinsTG	ENSP00000265433.3:p.Pro672Leu
ENST00000396252.6:c.*1888_*1889delinsTG	ENSP00000379551.2:n.*1888_*1889delinsTG
ENST00000409330.5:c.1769_1770delinsTG	ENSP00000386924.1:p.Pro590Leu
ENST00000520325.1:n.431_432delinsTG
ENST00000613033.1:c.180+1629_180+1630delinsTG	ENSP00000484487.1:n.180+1629_180+1630delinsTG
NM_001024688.2:c.1769_1770delinsTG	NP_001019859.1:p.Pro590Leu
NM_002485.4:c.2015_2016delinsTG , LRG_158t1:c.2015_2016delinsTG	NP_002476.2:p.Pro672Leu
XM_011517044.1:c.1991_1992delinsTG	XP_011515346.1:p.Pro664Leu
XM_011517045.1:c.1769_1770delinsTG	XP_011515347.1:p.Pro590Leu
XM_017013460.1:c.1136_1137delinsTG	XP_016868949.1:p.Pro379Leu
XM_017013462.2:c.1136_1137delinsTG	XP_016868951.1:p.Pro379Leu
XM_024447163.1:c.1769_1770delinsTG	XP_024302931.1:p.Pro590Leu
XM_024447164.1:c.1769_1770delinsTG	XP_024302932.1:p.Pro590Leu
XM_024447165.1:c.1136_1137delinsTG	XP_024302933.1:p.Pro379Leu
NM_002485.5:c.2015_2016delinsTG MANE Select	NP_002476.2:p.Pro672Leu
NM_001024688.3:c.1769_1770delinsTG	NP_001019859.1:p.Pro590Leu