Canonical Allele Identifier: CA2580617684

Gene: FLCN

Linked Data

• ClinVar Variation Id: 2578483
• ClinVar RCV Id: RCV003326259

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17227953del , CM000679.2:g.17227953del	GRCh38
NC_000017.10:g.17131267del , CM000679.1:g.17131267del	GRCh37
NC_000017.9:g.17071992del	NCBI36
NG_008001.2:g.14236del , LRG_325:g.14236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.185del MANE Select	ENSP00000285071.4:p.Ser62ThrfsTer?
ENST00000285071.8:c.185del	ENSP00000285071.4:p.Ser62ThrfsTer?
ENST00000389168.6:n.1525del
ENST00000389169.9:c.185del	ENSP00000373821.5:p.Ser62ThrfsTer?
ENST00000389171.4:n.689del
ENST00000417064.1:c.26del	ENSP00000410410.1:p.Ser9ThrfsTer?
ENST00000427497.3:c.148+37del	ENSP00000394249.3:n.148+37del
NM_144606.5:c.185del	NP_653207.1:p.Ser62ThrfsTer?
NM_144997.5:c.185del , LRG_325t1:c.185del	NP_659434.2:p.Ser62ThrfsTer?
XM_011523714.1:c.185del	XP_011522016.1:p.Ser62ThrfsTer?
XM_011523715.1:c.185del	XP_011522017.1:p.Ser62ThrfsTer?
XM_011523716.1:c.185del	XP_011522018.1:p.Ser62ThrfsTer?
XM_011523717.1:c.185del	XP_011522019.1:p.Ser62ThrfsTer?
XM_011523718.1:c.185del	XP_011522020.1:p.Ser62ThrfsTer?
XM_011523719.1:c.185del	XP_011522021.1:p.Ser62ThrfsTer?
XM_011523720.1:c.185del	XP_011522022.1:p.Ser62ThrfsTer?
XM_011523721.1:c.185del	XP_011522023.1:p.Ser62ThrfsTer?
XR_934007.1:n.1525del
NM_001353229.1:c.185del	NP_001340158.1:p.Ser62ThrfsTer?
NM_001353230.1:c.185del	NP_001340159.1:p.Ser62ThrfsTer?
NM_001353231.1:c.185del	NP_001340160.1:p.Ser62ThrfsTer?
NM_144606.6:c.185del	NP_653207.1:p.Ser62ThrfsTer?
NM_144997.6:c.185del	NP_659434.2:p.Ser62ThrfsTer?
XM_011523714.3:c.185del	XP_011522016.1:p.Ser62ThrfsTer?
XM_011523718.3:c.185del	XP_011522020.1:p.Ser62ThrfsTer?
XM_011523719.3:c.185del	XP_011522021.1:p.Ser62ThrfsTer?
XM_011523721.3:c.185del	XP_011522023.1:p.Ser62ThrfsTer?
XM_017024305.2:c.185del	XP_016879794.1:p.Ser62ThrfsTer?
XM_017024308.1:c.185del	XP_016879797.1:p.Ser62ThrfsTer?
XM_017024309.2:c.185del	XP_016879798.1:p.Ser62ThrfsTer?
XM_024450635.1:c.185del	XP_024306403.1:p.Ser62ThrfsTer?
XR_001752445.2:n.689del
NM_144997.7:c.185del MANE Select	NP_659434.2:p.Ser62ThrfsTer?
NM_001353229.2:c.185del	NP_001340158.1:p.Ser62ThrfsTer?
NM_001353230.2:c.185del	NP_001340159.1:p.Ser62ThrfsTer?
NM_001353231.2:c.185del	NP_001340160.1:p.Ser62ThrfsTer?
NM_144606.7:c.185del	NP_653207.1:p.Ser62ThrfsTer?