Canonical Allele Identifier: CA2580614015
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 2566341
ClinVar RCV Id: RCV003306508

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17219055_17219057delinsATTCCGGGGCTGCCAGCTC , CM000679.2:g.17219055_17219057delinsATTCCGGGGCTGCCAGCTC GRCh38
NC_000017.10:g.17122369_17122371delinsATTCCGGGGCTGCCAGCTC , CM000679.1:g.17122369_17122371delinsATTCCGGGGCTGCCAGCTC GRCh37
NC_000017.9:g.17063094_17063096delinsATTCCGGGGCTGCCAGCTC NCBI36
NG_008001.2:g.23132_23134delinsGAGCTGGCAGCCCCGGAAT , LRG_325:g.23132_23134delinsGAGCTGGCAGCCCCGGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT MANE Select ENSP00000285071.4:p.Lys342GlufsTer?
ENST00000285071.8:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT ENSP00000285071.4:p.Lys342GlufsTer?
ENST00000427497.3:c.149-3_149-1delinsGAGCTGGCAGCCCCGGAAT ENSP00000394249.3:n.149-3_149-1delinsGAGCTGGCAGCCCCGGAAT
ENST00000577591.1:n.47_49delinsGAGCTGGCAGCCCCGGAAT
NM_144997.5:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT , LRG_325t1:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_659434.2:p.Lys342GlufsTer?
XM_011523714.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522016.1:p.Lys360GlufsTer?
XM_011523715.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522017.1:p.Lys360GlufsTer?
XM_011523716.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522018.1:p.Lys360GlufsTer?
XM_011523717.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522019.1:p.Lys360GlufsTer?
XM_011523718.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522020.1:p.Lys360GlufsTer?
XM_011523719.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522021.1:p.Lys360GlufsTer?
XM_011523720.1:c.802_804delinsGAGCTGGCAGCCCCGGAAT XP_011522022.1:p.Lys268GlufsTer?
XM_011523721.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522023.1:p.Lys360GlufsTer?
XR_934007.1:n.2418_2420delinsGAGCTGGCAGCCCCGGAAT
NM_001353229.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT NP_001340158.1:p.Lys360GlufsTer?
NM_001353230.1:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_001340159.1:p.Lys342GlufsTer?
NM_001353231.1:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_001340160.1:p.Lys342GlufsTer?
NM_144997.6:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_659434.2:p.Lys342GlufsTer?
XM_011523714.3:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522016.1:p.Lys360GlufsTer?
XM_011523718.3:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522020.1:p.Lys360GlufsTer?
XM_011523719.3:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522021.1:p.Lys360GlufsTer?
XM_011523721.3:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_011522023.1:p.Lys360GlufsTer?
XM_017024305.2:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_016879794.1:p.Lys360GlufsTer?
XM_017024308.1:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT XP_016879797.1:p.Lys342GlufsTer?
XM_017024309.2:c.802_804delinsGAGCTGGCAGCCCCGGAAT XP_016879798.1:p.Lys268GlufsTer?
XM_024450635.1:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT XP_024306403.1:p.Lys360GlufsTer?
XR_001752445.2:n.1582_1584delinsGAGCTGGCAGCCCCGGAAT
NM_144997.7:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT MANE Select NP_659434.2:p.Lys342GlufsTer?
NM_001353229.2:c.1078_1080delinsGAGCTGGCAGCCCCGGAAT NP_001340158.1:p.Lys360GlufsTer?
NM_001353230.2:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_001340159.1:p.Lys342GlufsTer?
NM_001353231.2:c.1024_1026delinsGAGCTGGCAGCCCCGGAAT NP_001340160.1:p.Lys342GlufsTer?