Canonical Allele Identifier: CA2250420870
Gene: FLCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17222518_17222541delinsCAGGCACGCCCACAGGTTGTCATC , CM000679.2:g.17222518_17222541delinsCAGGCACGCCCACAGGTTGTCATC GRCh38
NC_000017.10:g.17125832_17125855delinsCAGGCACGCCCACAGGTTGTCATC , CM000679.1:g.17125832_17125855delinsCAGGCACGCCCACAGGTTGTCATC GRCh37
NC_000017.9:g.17066557_17066580delinsCAGGCACGCCCACAGGTTGTCATC NCBI36
NG_008001.2:g.19648_19671delinsGATGACAACCTGTGGGCGTGCCTG , LRG_325:g.19648_19671delinsGATGACAACCTGTGGGCGTGCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG MANE Select ENSP00000285071.4:p.Asp247=
ENST00000285071.8:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG ENSP00000285071.4:p.Asp247=
ENST00000389169.9:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG ENSP00000373821.5:p.Asp247=
ENST00000427497.3:c.149-3487_149-3464delinsGATGACAACCTGTGGGCGTGCCTG ENSP00000394249.3:n.149-3487_149-3464delinsGATGACAACCTGTGGGCG...
ENST00000466317.1:n.582_605delinsGATGACAACCTGTGGGCGTGCCTG
ENST00000480316.1:n.705_728delinsGATGACAACCTGTGGGCGTGCCTG
NM_144606.5:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_653207.1:p.Asp247=
NM_144997.5:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG , LRG_325t1:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_659434.2:p.Asp247=
XM_011523714.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522016.1:p.Asp265=
XM_011523715.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522017.1:p.Asp265=
XM_011523716.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522018.1:p.Asp265=
XM_011523717.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522019.1:p.Asp265=
XM_011523718.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522020.1:p.Asp265=
XM_011523719.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522021.1:p.Asp265=
XM_011523720.1:c.517_540delinsGATGACAACCTGTGGGCGTGCCTG XP_011522022.1:p.Asp173=
XM_011523721.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522023.1:p.Asp265=
XR_934007.1:n.2133_2156delinsGATGACAACCTGTGGGCGTGCCTG
NM_001353229.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG NP_001340158.1:p.Asp265=
NM_001353230.1:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_001340159.1:p.Asp247=
NM_001353231.1:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_001340160.1:p.Asp247=
NM_144606.6:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_653207.1:p.Asp247=
NM_144997.6:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_659434.2:p.Asp247=
XM_011523714.3:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522016.1:p.Asp265=
XM_011523718.3:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522020.1:p.Asp265=
XM_011523719.3:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522021.1:p.Asp265=
XM_011523721.3:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_011522023.1:p.Asp265=
XM_017024305.2:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_016879794.1:p.Asp265=
XM_017024308.1:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG XP_016879797.1:p.Asp247=
XM_017024309.2:c.517_540delinsGATGACAACCTGTGGGCGTGCCTG XP_016879798.1:p.Asp173=
XM_024450635.1:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG XP_024306403.1:p.Asp265=
XR_001752445.2:n.1297_1320delinsGATGACAACCTGTGGGCGTGCCTG
NM_144997.7:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG MANE Select NP_659434.2:p.Asp247=
NM_001353229.2:c.793_816delinsGATGACAACCTGTGGGCGTGCCTG NP_001340158.1:p.Asp265=
NM_001353230.2:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_001340159.1:p.Asp247=
NM_001353231.2:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_001340160.1:p.Asp247=
NM_144606.7:c.739_762delinsGATGACAACCTGTGGGCGTGCCTG NP_653207.1:p.Asp247=