Canonical Allele Identifier: CA2695201502

Gene: NBN

Linked Data

• ClinVar Variation Id: 2676931
• ClinVar RCV Id: RCV003470290

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953523_89953524insTA , CM000670.2:g.89953523_89953524insTA	GRCh38
NC_000008.10:g.90965751_90965752insTA , CM000670.1:g.90965751_90965752insTA	GRCh37
NC_000008.9:g.91034927_91034928insTA	NCBI36
NG_008860.1:g.36148_36149insTA , LRG_158:g.36148_36149insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2867_2868insTA
ENST00000517337.2:c.1319_1320insTA	ENSP00000429971.2:p.Leu440PhefsTer8
ENST00000523444.2:c.1319_1320insTA	ENSP00000428252.2:p.Leu440PhefsTer8
ENST00000697292.1:c.1565_1566insTA	ENSP00000513229.1:p.Leu522PhefsTer8
ENST00000697293.1:c.1565_1566insTA	ENSP00000513230.1:p.Leu522PhefsTer8
ENST00000697294.1:c.*1176_*1177insTA	ENSP00000513231.1:n.*1176_*1177insTA
ENST00000697295.1:c.*874_*875insTA	ENSP00000513232.1:n.*874_*875insTA
ENST00000697296.1:c.*1233_*1234insTA	ENSP00000513233.1:n.*1233_*1234insTA
ENST00000697297.1:n.3350_3351insTA
ENST00000697298.1:c.1319_1320insTA	ENSP00000513234.1:p.Leu440PhefsTer8
ENST00000697299.1:c.1319_1320insTA	ENSP00000513235.1:p.Leu440PhefsTer8
ENST00000697300.1:c.*1169_*1170insTA	ENSP00000513236.1:n.*1169_*1170insTA
ENST00000697301.1:c.*1086_*1087insTA	ENSP00000513237.1:n.*1086_*1087insTA
ENST00000697302.1:c.*1086_*1087insTA	ENSP00000513238.1:n.*1086_*1087insTA
ENST00000697303.1:c.*1169_*1170insTA	ENSP00000513239.1:n.*1169_*1170insTA
ENST00000697304.1:c.1253_1254insTA	ENSP00000513240.1:p.Leu418PhefsTer8
ENST00000697306.1:c.*565_*566insTA	ENSP00000513241.1:n.*565_*566insTA
ENST00000697307.1:c.1565_1566insTA	ENSP00000513242.1:p.Leu522PhefsTer8
ENST00000697308.1:c.1565_1566insTA	ENSP00000513243.1:p.Leu522PhefsTer8
ENST00000697309.1:c.1565_1566insTA	ENSP00000513244.1:p.Leu522PhefsTer8
ENST00000697310.1:c.1565_1566insTA	ENSP00000513245.1:p.Leu522PhefsTer8
ENST00000697311.1:c.1565_1566insTA	ENSP00000513246.1:p.Leu522PhefsTer8
ENST00000697312.1:c.*963_*964insTA	ENSP00000513247.1:n.*963_*964insTA
ENST00000697313.1:n.2687+16840_2687+16841insTA
ENST00000697314.1:n.3356_3357insTA
ENST00000697315.1:c.1565_1566insTA	ENSP00000513248.1:p.Leu522PhefsTer8
ENST00000697316.1:n.1686_1687insTA
ENST00000697317.1:n.1675_1676insTA
ENST00000697318.1:n.1677_1678insTA
ENST00000265433.8:c.1565_1566insTA MANE Select	ENSP00000265433.4:p.Leu522PhefsTer8
ENST00000265433.7:c.1565_1566insTA	ENSP00000265433.3:p.Leu522PhefsTer8
ENST00000396252.6:c.*1438_*1439insTA	ENSP00000379551.2:n.*1438_*1439insTA
ENST00000409330.5:c.1319_1320insTA	ENSP00000386924.1:p.Leu440PhefsTer8
NM_001024688.2:c.1319_1320insTA	NP_001019859.1:p.Leu440PhefsTer8
NM_002485.4:c.1565_1566insTA , LRG_158t1:c.1565_1566insTA	NP_002476.2:p.Leu522PhefsTer8
XM_011517044.1:c.1541_1542insTA	XP_011515346.1:p.Leu514PhefsTer8
XM_011517045.1:c.1319_1320insTA	XP_011515347.1:p.Leu440PhefsTer8
XR_928335.1:n.1704_1705insTA
XM_017013460.1:c.686_687insTA	XP_016868949.1:p.Leu229PhefsTer8
XM_017013462.2:c.686_687insTA	XP_016868951.1:p.Leu229PhefsTer8
XM_024447163.1:c.1319_1320insTA	XP_024302931.1:p.Leu440PhefsTer8
XM_024447164.1:c.1319_1320insTA	XP_024302932.1:p.Leu440PhefsTer8
XM_024447165.1:c.686_687insTA	XP_024302933.1:p.Leu229PhefsTer8
NM_002485.5:c.1565_1566insTA MANE Select	NP_002476.2:p.Leu522PhefsTer8
NM_001024688.3:c.1319_1320insTA	NP_001019859.1:p.Leu440PhefsTer8