Canonical Allele Identifier: CA2573153089

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1454279
• ClinVar RCV Id: RCV001941786
• dbSNP Id: rs2145048688

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17228066_17228078del , CM000679.2:g.17228066_17228078del	GRCh38
NC_000017.10:g.17131380_17131392del , CM000679.1:g.17131380_17131392del	GRCh37
NC_000017.9:g.17072105_17072117del	NCBI36
NG_008001.2:g.14118_14130del , LRG_325:g.14118_14130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.67_79del MANE Select	ENSP00000285071.4:p.Glu23ProfsTer28
ENST00000285071.8:c.67_79del	ENSP00000285071.4:p.Glu23ProfsTer28
ENST00000389168.6:n.1407_1419del
ENST00000389169.9:c.67_79del	ENSP00000373821.5:p.Glu23ProfsTer28
ENST00000389171.4:n.571_583del
ENST00000417064.1:c.-27-66_-27-54del	ENSP00000410410.1:n.-27-66_-27-54del
ENST00000427497.3:c.67_79del	ENSP00000394249.3:p.Glu23ProfsTer?
ENST00000461699.1:c.67_79del	ENSP00000463970.1:p.Glu23ProfsTer?
NM_144606.5:c.67_79del	NP_653207.1:p.Glu23ProfsTer28
NM_144997.5:c.67_79del , LRG_325t1:c.67_79del	NP_659434.2:p.Glu23ProfsTer28
XM_011523714.1:c.67_79del	XP_011522016.1:p.Glu23ProfsTer28
XM_011523715.1:c.67_79del	XP_011522017.1:p.Glu23ProfsTer28
XM_011523716.1:c.67_79del	XP_011522018.1:p.Glu23ProfsTer28
XM_011523717.1:c.67_79del	XP_011522019.1:p.Glu23ProfsTer28
XM_011523718.1:c.67_79del	XP_011522020.1:p.Glu23ProfsTer28
XM_011523719.1:c.67_79del	XP_011522021.1:p.Glu23ProfsTer28
XM_011523720.1:c.67_79del	XP_011522022.1:p.Glu23ProfsTer28
XM_011523721.1:c.67_79del	XP_011522023.1:p.Glu23ProfsTer28
XR_934007.1:n.1407_1419del
NM_001353229.1:c.67_79del	NP_001340158.1:p.Glu23ProfsTer28
NM_001353230.1:c.67_79del	NP_001340159.1:p.Glu23ProfsTer28
NM_001353231.1:c.67_79del	NP_001340160.1:p.Glu23ProfsTer28
NM_144606.6:c.67_79del	NP_653207.1:p.Glu23ProfsTer28
NM_144997.6:c.67_79del	NP_659434.2:p.Glu23ProfsTer28
XM_011523714.3:c.67_79del	XP_011522016.1:p.Glu23ProfsTer28
XM_011523718.3:c.67_79del	XP_011522020.1:p.Glu23ProfsTer28
XM_011523719.3:c.67_79del	XP_011522021.1:p.Glu23ProfsTer28
XM_011523721.3:c.67_79del	XP_011522023.1:p.Glu23ProfsTer28
XM_017024305.2:c.67_79del	XP_016879794.1:p.Glu23ProfsTer28
XM_017024308.1:c.67_79del	XP_016879797.1:p.Glu23ProfsTer28
XM_017024309.2:c.67_79del	XP_016879798.1:p.Glu23ProfsTer28
XM_024450635.1:c.67_79del	XP_024306403.1:p.Glu23ProfsTer28
XR_001752445.2:n.571_583del
NM_144997.7:c.67_79del MANE Select	NP_659434.2:p.Glu23ProfsTer28
NM_001353229.2:c.67_79del	NP_001340158.1:p.Glu23ProfsTer28
NM_001353230.2:c.67_79del	NP_001340159.1:p.Glu23ProfsTer28
NM_001353231.2:c.67_79del	NP_001340160.1:p.Glu23ProfsTer28
NM_144606.7:c.67_79del	NP_653207.1:p.Glu23ProfsTer28